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Acute ataxia

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https://www.readbyqxmd.com/read/29325032/effect-of-diazoxide-on-friedreich-ataxia-models
#1
Antonella Santoro, Sara Anjomani Virmouni, Eleonora Paradies, Valentina L Villalobos Coa, Sahar Al-Mahdawi, Mee Khoo, Vito Porcelli, Angelo Vozza, Mara Perrone, Nunzio Denora, Franco Taroni, Giuseppe Merla, Luigi Palmieri, Mark A Pook, Carlo M T Marobbio
Friedreich ataxia (FRDA) is an inherited recessive disorder caused by a deficiency in the mitochondrial protein frataxin. There is currently no effective treatment for FRDA available, especially for neurological deficits. In this study, we tested diazoxide, a drug commonly used as vasodilator in the treatment of acute hypertension, on cellular and animal models of FRDA. We first showed that diazoxide increases frataxin protein levels in FRDA lymphoblastoid cell lines, via the mTOR pathway. We then explored the potential therapeutic effect of diazoxide in frataxin-deficient transgenic YG8sR mice and we found that prolonged oral administration of 3mpk/d diazoxide was found to be safe, but produced variable effects concerning efficacy...
January 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29307027/does-restricted-diffusion-in-the-splenium-indicate-an-acute-infarct
#2
Zeynep Ezgi Balcik, Songül Senadim, Aslı Keskek, Ayşe Ozudogru, Ayhan Koksal, Aysun Soysal, Dilek Atakli
OBJECTIVE: Although splenial lesions are rare, they are frequently associated with ischemic infarcts, antiepileptic drug toxicity or abrupt discontinuation, viral encephalitis, and metabolic disturbances. In this study, we evaluated clinical and imaging findings and aetiology in 16 patients with splenium lesions. METHODS: Between 2013 and 2017, patients with splenium lesions were examined. Magnetic resonance imaging (MRI) was performed using a 1.5-T unit with fluid attenuation inversion recovery sequences...
January 6, 2018: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29301160/-pharmacotherapy-of-vestibular-disorders-nystagmus-and-cerebellar-disorders
#3
K Feil, N Böttcher, O Kremmyda, C Muth, J Teufel, A Zwergal, T Brandt, M Strupp
There are currently different groups of drugs for the pharmacotherapy of vertigo, nystagmus and cerebellar disorders: antiemetics; anti-inflammatories, antimenieres, and antimigraineous medications and antidepressants, anticonvulsants, aminopyridines as well as acetyl-DL-leucine. In acute unilateral vestibulopathy, corticosteroids improve the recovery of peripheral vestibular function, but currently there is not sufficient evidence for a general recommendation. There is insufficient evidence to support the view that 16 mg t...
January 2018: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/29297541/miller-fisher-syndrome-after-coronary-artery-bypass-surgery
#4
Mustafa Aldag, Sebnem Albeyoglu, Ufuk Ciloglu, Hakan Kutlu, Levent Ceylan
Miller-Fisher syndrome (MFS) is an uncommon neurological disorder that is considered a variant of the Guillain-Barre syndrome (GBS). It is clinically defined by a triad of symptoms, namely ataxia, areflexia and ophthalmoplegia. These acute inflammatory polyradiculopathic syndromes can be triggered by viral infections, major surgery, pregnancy or vaccination. While the overall incidence of GBS is 1.2-2.3 per 100 000 per year, MFS is a relatively rare disorder. Only six cases of GBS after cardiac surgery have been reported, and to our knowledge, we describe the first case of MFS after coronary artery bypass surgery...
November 23, 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/29289523/principles-and-approaches-to-the-treatment-of-immune-mediated-movement-disorders
#5
REVIEW
Shekeeb S Mohammad, Russell C Dale
Immune mediated movement disorders include movement disorders in the context of autoimmune encephalitis such as anti-NMDAR encephalitis, post-infectious autoimmune movement disorders such as Sydenham chorea, paraneoplastic autoimmune movement disorders such as opsoclonus myoclonus ataxia syndrome, and infection triggered conditions such as paediatric acute neuropsychiatric syndrome. This review focuses on the approach to treatment of immune mediated movement disorders, which requires an understanding of the immunopathogenesis, whether the disease is destructive or 'altering', and the natural history of disease...
December 19, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29282702/treatment-of-dizziness-an-interdisciplinary-update
#6
Rainer Spiegel, Heiko Rust, Thomas Baumann, Hergen Friedrich, Raoul Sutter, Martina Göldlin, Christiane Rosin, René Müri, Georgios Mantokoudis, Roland Bingisser, Michael Strupp, Roger Kalla
This review provides an update on interdisciplinary treatment for dizziness. Dizziness can have various causes and the treatment offered should depend on the cause. After reading this article, the clinician will have an overview of current treatment recommendations. Recommendations are made for the most prevalent causes of dizziness including acute and chronic vestibular syndromes, vestibular neuritis, benign paroxysmal positional vertigo, endolymphatic hydrops and Menière's disease, vestibular paroxysmia and vestibular migraine, cardiac causes, transient ischaemic attacks and strokes, episodic ataxia type 2, persistent postural-perceptual dizziness, bilateral vestibulopathy, degenerative, autoimmune and neoplastic diseases, upbeat- and downbeat nystagmus...
December 28, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29262477/-clinical-analysis-of-four-cases-of-anti-gq1b-syndrome
#7
X Y Yang, T L Han, W H Zhang, S Zhang, F Fang
Objective: To investigate the clinical manifestations, laboratory findings, treatment and outcome of anti-GQ1b antibody syndrome. Method: The clinical manifestations, laboratory examination, diagnosis, treatment and prognosis of (4 patients 4 male patients, from 4 to 12 years) with anti-GQ1b syndrome in Beijing Children's Hospital affiliated to Capital Medical University from 2015 to 2016 were retrospectively analyzed. Result: All 4 children presented with ataxia. Case 1 showed impaired speech, ptosis and weakness of arms; case 2 and 3 had external ophthalmoplegia, weakness of limbs; case 4 presented hypersomnia, irritability and hallucinations...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29250758/refractory-facial-paralysis-a-case-report
#8
Yu-Wei Hsu, Jiunn-Tay Lee, Yi-Shu Liao, Shin Nieh, Chun-An Cheng, Chia-Kuang Tsai
PURPOSE: To present a case of salivary gland malignancy initially mimicking Bell's palsy. CASE REPORT: A 75-year-old woman with hypertension visited our neurological outpatient department,complaining of persistent right facial paralysis for more than a year after oral glucocorticoid therapy with recent development of vertigo and unsteady gait. She was previously diagnosed as having Bell's palsy and was prescribed oral glucocorticoid. However, her right facial muscles were still completely paralyzed, with no signs of improvement...
June 15, 2017: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/29249765/acute-cerebellar-ataxia-induced-by-nivolumab
#9
Reina Kawamura, Eiichiro Nagata, Masako Mukai, Yoichi Ohnuki, Tomohiko Matsuzaki, Kana Ohiwa, Tomoki Nakagawa, Mitsutomo Kohno, Ryota Masuda, Masayuki Iwazaki, Shunya Takizawa
A 54-year-old woman with adenocarcinoma of the lung and lymph node metastasis experienced nystagmus and cerebellar ataxia 2 weeks after initiating nivolumab therapy. An evaluation for several autoimmune-related antibodies and paraneoplastic syndrome yielded negative results. We eventually diagnosed the patient with nivolumab-induced acute cerebellar ataxia, after excluding other potential conditions. Her ataxic gait and nystagmus resolved shortly after intravenous steroid pulse therapy followed by the administration of decreasing doses of oral steroids...
2017: Internal Medicine
https://www.readbyqxmd.com/read/29246631/assessment-of-percheron-infarction-in-images-and-clinical-findings
#10
Zhihua Xu, Lingling Sun, Yang Duan, Jinghua Zhang, Mengzhi Zhang, Xiaonan Cai
OBJECTIVE: To assess the imaging and clinical features of patients with an artery of Percheron infarction comprehensively. METHODS: Of 6539 patients with a first-ever stroke, 18 patients with a Percheron infarction were enrolled, and their images and clinical data were retrospectively investigated. RESULTS: All patients underwent neurological intensive care unit (NICU) management. The initial symptom of a Percheron infarction included dizziness, transient blurred vision, double vision, barylalia, cerebellar ataxia, drowsiness, and a coma...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29243130/neuroleptic-malignant-syndrome-as-a-presenting-feature-of-subacute-sclerosing-panencephalitis
#11
Divyani Garg, Varun Reddy, Rajesh Kumar Singh, Deepa Dash, Rohit Bhatia, Manjari Tripathi
Subacute sclerosing panencephalitis (SSPE) is a slowly progressive degenerative disorder caused by measles virus. It is characterised by typical clinical and electrophysiological features in the form of slow myoclonic jerks, with progressive cognitive impairment, visual symptoms, and periodic complexes on EEG, with raised titres of anti-measles antibodies in CSF and serum. Atypical presentations of SSPE have been reported including brainstem involvement, ADEM-like presentation, acute encephalitis, and cerebellar ataxia...
December 14, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/29222073/the-functional-impairments-in-a-patient-with-morvan-s-syndrome-a-case-report
#12
Stephanie Tow, Desi Carozza, Kim Barker
A 48 year-old man with lung squamous cell carcinoma was admitted to acute care with cognitive impairment after recent chemotherapy. He developed myoclonus, ataxia, agitation, and visual hallucinations. Morvan's Syndrome, a rare voltage-gated potassium channel antibody disorder characterized by neuromyotonia with central nervous system dysfunction, was eventually diagnosed. He received plasmapheresis and was admitted to inpatient rehabilitation, where he safely participated in therapies. By focusing on neuromuscular rehabilitation, balance training, fine motor skills, and cognitive retraining emphasizing skills relevant to the patient's premorbid cognitive activities, the patient demonstrated significant functional improvement, decreasing the burden of care of his caregivers...
December 5, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29211771/short-term-succinic-acid-treatment-mitigates-cerebellar-mitochondrial-oxphos-dysfunction-neurodegeneration-and-ataxia-in-a-purkinje-specific-spinocerebellar-ataxia-type-1-sca1-mouse-model
#13
Austin Ferro, Emily Carbone, Jenny Zhang, Evan Marzouk, Monica Villegas, Asher Siegel, Donna Nguyen, Thomas Possidente, Jessilyn Hartman, Kailen Polley, Melissa A Ingram, Georgia Berry, Thomas H Reynolds, Bernard Possidente, Kimberley Frederick, Stephen Ives, Sarita Lagalwar
Mitochondrial dysfunction plays a significant role in neurodegenerative disease including ataxias and other movement disorders, particularly those marked by progressive degeneration in the cerebellum. In this study, we investigate the role of mitochondrial oxidative phosphorylation (OXPHOS) deficits in cerebellar tissue of a Purkinje cell-driven spinocerebellar ataxia type 1 (SCA1) mouse. Using RNA sequencing transcriptomics, OXPHOS complex assembly analysis and oxygen consumption assays, we report that in the presence of mutant polyglutamine-expanded ataxin-1, SCA1 mice display deficits in cerebellar OXPHOS complex I (NADH-coenzyme Q oxidoreductase)...
2017: PloS One
https://www.readbyqxmd.com/read/29204290/meningeal-carcinomatosis-and-spinal-cord-infiltration-caused-by-a-locally-invasive-pulmonary-adenocarcinoma-in-a-cat
#14
Christoforos Posporis, Llorenç Grau-Roma, Olga Travetti, Maria Oliveira, Laura Polledo, Annette Wessmann
Case summary: A 12-year-old domestic shorthair cat was presented with acute non-painful hindlimb proprioceptive ataxia localising to T3-L3 spinal cord segments. MRI revealed paravertebral muscular hyperintensity on T2-weighted images at the level of T7-T8 vertebrae. The cat improved on conservative management but deteriorated 3 months later. Repeated MRI showed meningeal enhancement at the same level and hyperintensity of the paravertebral musculature extending to the right thoracic wall and pleural space on short tau inversion recovery images...
July 2017: JFMS Open Reports
https://www.readbyqxmd.com/read/29202675/acute-hepatic-steatosis-a-helpful-diagnostic-feature-in-metallic-phosphide-poisoned-horses
#15
Jonathan H Fox, Brian F Porter, Leslie Easterwood, Justin R V Hildenbrand, Pierre Hélie, James Smylie, Donal O'Toole
Metal phosphides, particularly zinc and aluminum phosphide, occasionally poison horses and other equids following their use as rodenticides and insecticides. Grain-based aluminum phosphide baits are used to control rodents such as prairie dogs. The clinical course in intoxicated horses is short (<24-48 h), and animals may be found dead. Hepatic lesions caused by phosphine poisoning are not well described. Laboratory confirmation depends on detecting phosphine gas in gastric contents. Eight horses and a mule were exposed to zinc phosphide used to control prairie dogs on a Wyoming ranch...
December 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/29200166/ataxia-telangiectasia-and-cancer-predisposition-challenges-in-management
#16
Santhosh A Upadhyaya, Rajen Mody, Kelly Walkovich, Raymond J Hutchinson, John T Sandlund, James A Connelly
Immune dysregulation and predisposition to malignancies are critical comorbidities in children affected with ataxia telangiectasia. In addition, these children exhibit increased toxicity to conventional cancer therapy and dose reductions have been proposed to prevent life threatening adverse effects. These modifications to the treatment regimen may result in suboptimal outcomes for these patients. Our report of 3 children with ataxia telangiectasia and cancer highlight the immense challenges in the management of these children, underlining the need for the development of novel, biological agents with reduced acute and long-term side effects in the treatment of cancers in these children...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29198411/epileptic-spasms-secondary-to-acute-cerebral-and-cerebellar-encephalitis
#17
Tohru Okanishi, Ayataka Fujimoto, Risa Hashimoto, Mitsuyo Nishimura, Sotaro Kanai, Miho Ogawa, Takayuki Suzuki, Hirotaka Motoi, Yukitoshi Takahashi, Hideo Enoki
BACKGROUND: Patients with infection-related acute encephalitis sometimes develop epilepsy in the chronic phase of the disease. Patients with postencephalitic epilepsy usually develop partial seizures due to the lesions generated by the encephalitis. We report a case who developed late-onset epileptic spasms after acute cerebral and cerebellar encephalitis. CASE REPORT: A 5-year-old girl showed severe tremor, gait ataxia, partial or generalized tonic-clonic seizures, hyperactivity, and panic attacks after a mild enterocolitis...
November 29, 2017: Brain & Development
https://www.readbyqxmd.com/read/29184769/diffuse-glioblastoma-resembling-acute-hemorrhagic-leukoencephalitis
#18
Carla Schettino, Ferdinando Caranci, Giacomo Lus, Elisabetta Signoriello, Marica Eoli, Elena Anghileri, Bianca Pollo, Mariarosa A B Melone, Giuseppe Di Iorio, Gaetano Finocchiaro, Lorenzo Ugga, Enrico Tedeschi
We report the case of a young man with sudden onset of diplopia after an upper respiratory tract infection. Based on the first radiological findings acute hemorrhagic leukoencephalitis, a variant of acute disseminated encephalomyelitis, was suspected and treatment with high dose intravenous dexamethasone was started but it was stopped for intolerance. The patient clinically worsened, developing gait instability, ataxia and ophthalmoplegia; brain MRI performed 20 days later showed severe progression of the disease with subependymal dissemination...
October 2017: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/29166939/acute-cerebellitis-in-adults-a-case-report-and-review-of-the-literature
#19
A Van Samkar, M N F Poulsen, H P Bienfait, R B Van Leeuwen
BACKGROUND: Acute cerebellitis is a rare disease with the majority of cases described in children. Little is known about the clinical characteristics and outcome in adults. CASE PRESENTATION: A 37-year-old Caucasian woman presented with headache, nausea, and photophobia, and was diagnosed as having a migraine attack. Two days later, she subsequently returned with aggravated headache, dysarthria and horizontal nystagmus. Magnetic resonance imaging (MRI) showed a swollen cerebellum and hydrocephalus and the patient was diagnosed with acute cerebellitis...
November 22, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29141794/short-term-outcome-of-adem-results-from-a-retrospective-cohort-study-from-south-india
#20
Mary Iype, P A Mohammed Kunju, Geetha Saradakutty, T S Anish, Mini Sreedharan, Shahanaz M Ahamed
INTRODUCTION: Acute disseminated encephalomyelitis (ADEM), an immune mediated inflammatory disease is common in children. The profile and immediate outcome of children hospitalized with ADEM is scarce in the available literature. OBJECTIVES: We aimed to study the clinical profile of children with ADEM and to look for prognostic factors for outcome at discharge from hospital METHODS: We chose a retrospective cohort study of all children diagnosed with ADEM at our institution between January 2006 and December 2015, and they were evaluated, after excluding other diagnoses when they were summoned for a follow up visit...
November 2017: Multiple Sclerosis and related Disorders
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