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Myoclonus

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https://www.readbyqxmd.com/read/28229249/adcy5-related-dyskinesia-presenting-as-familial-myoclonus-dystonia
#1
Andrew G L Douglas, Gaia Andreoletti, Kevin Talbot, Simon R Hammans, Jaspal Singh, Andrea Whitney, Sarah Ennis, Nicola C Foulds
We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia associated with a novel missense mutation in ADCY5, found through whole-exome sequencing. A tiered analytical approach was used to analyse whole-exome sequencing data from an affected grandmother-granddaughter pair. Whole-exome sequencing identified 18,000 shared variants, of which 46 were non-synonymous changes not present in a local cohort of control exomes (n = 422). Further filtering based on predicted splicing effect, minor allele frequency in the 1000 Genomes Project and on phylogenetic conservation yielded 13 candidate variants, of which the heterozygous missense mutation c...
February 22, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28227729/high-frame-rate-medical-quality-video-compression-for-tele-eeg
#2
Laurent Lambert, Syed Zahid Ahmed, Khalil Hachicha, Andrea Pinna, Patrick Garda, Laurent Lambert, Syed Zahid Ahmed, Khalil Hachicha, Andrea Pinna, Patrick Garda, Syed Zahid Ahmed, Andrea Pinna, Laurent Lambert, Patrick Garda, Khalil Hachicha
More and more, exams require medical images as a tool to diagnose pathologies. Thus, the transfer and storage of the exam data becomes a critical issue. To address this issue, an image compression algorithm called Waaves has been developed and certified for medical imaging. Our work in this paper deals with a scenario of EEG exams where video of the patient is also recorded in order to correctly diagnose myoclonus pathologies. To achieve this goal, the video needs to be of high quality and at frame rate of at least 100 frames per second...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28223849/review-about-gabapentin-misuse-interactions-contraindications-and-side-effects
#3
REVIEW
Gabriel C Quintero
The current work is targeted to review the risks of gabapentin misuse, its potential interactions with other drugs, side effects and use contraindications. This review consists of a total of 99 biographical references (from the year 1983 to 2016). A publication search of PubMed was performed from January 1983 to December 2016. It included animal studies, clinical studies, case studies and reviews related to gabapentin misuse, potential interactions, side effects and use contraindications. The search terms were gabapentin, anticonvulsant and antiepileptic...
2017: Journal of Experimental Pharmacology
https://www.readbyqxmd.com/read/28223779/effect-of-dexmedetomidine-in-preventing-etomidate-induced-myoclonus-a-meta-analysis
#4
REVIEW
Xueke Du, Chengmao Zhou, Linghui Pan, Changlong Li
OBJECTIVE: To investigate the effect of dexmedetomidine in the prevention of etomidate-induced myoclonus. METHODS: We searched for randomized controlled trials (RCTs) regarding the use of dexmedetomidine in preventing etomidate-induced myoclonus in the databases PubMed, EMBASE, the Cochrane Library, and CNKI. We extracted data and assessed the quality of the literature and adopted RevMan 5.2 to conduct meta-analysis on each effective index and employed funnel plot to test publication bias...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28217170/neuroblastoma-presenting-as-opsoclonus-myoclonus-a-series-of-six-cases-and-review-of-literature
#5
Jagdish P Meena, Rachna Seth, Biswaroop Chakrabarty, Sheffali Gulati, Sandeep Agrawala, Priyanka Naranje
The opsoclonus-myoclonus ataxia syndrome (OMAS) also called "Kinsbourne syndrome" or "dancing eye syndrome" is a rare but serious disorder characterized by opsoclonus, myoclonus, and ataxia, along with extreme irritability and behavioural changes. Data on its epidemiology, clinical features, and outcome are limited worldwide. The aim of the study was to evaluate the clinical profile and outcome of children with OMAS. A retrospective data of all children presented to Pediatric oncology clinic with a diagnosis of opsoclonus-myoclonus from 2013 to 2016 were collected...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28217166/multifocal-myoclonus-as-a-heralding-manifestation-of-wilson-disease
#6
Rajesh Verma, Vikram V Holla, Suchit Pandey, Imran Rizvi
Wilson disease (WD) is one of the few curable movement disorders that manifests with varied presentations so that WD needs to be considered in any patient with a movement disorder under the age of 50 years. Although WD is one of the causes of myoclonus, it is rarely seen in WD and usually as an associated finding. We report a case of an adolescent female patient of WD who presented with cortical multifocal myoclonus of 6-month duration with later development of generalized dystonia, extrapyramidal syndrome, and cognitive decline...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28216058/sca13-causes-dominantly-inherited-non-progressive-myoclonus-ataxia
#7
Solveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, Claire Ewenczyk, Mathilde Renaud, Claire Guissart, Jean Muller, André Pierre Legrand, Alexandra Durr, Vincent Laugel, Michel Koenig, Christine Tranchant, Mathieu Anheim
INTRODUCTION: Spinocerebellar ataxia 13 (SCA13) is a rare autosomal dominant cerebellar ataxia. To our knowledge, its association to movement disorders has never been described. We aimed at reporting 8 new SCA13 cases with a focus on movement disorders especially myoclonus. METHODS: We performed a detailed neurological examination and neurophysiological recording in 8 patients consecutively diagnosed with SCA13 between December 2013 and October 2015 and followed up in two French tertiary centers...
February 11, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28203564/neurotoxicity-following-the-ingestion-of-bilimbi-fruit-averrhoa-bilimbi-in-an-end-stage-renal-disease-patient-on-hemodialysis
#8
Camille Pereira Caetano, Cinara Barros de Sá, Bruno Antônio Paixão Faleiros, Marcelo Fonseca Coutinho Fernandes Gomes, Edna Regina Silva Pereira
INTRODUCTION: The toxic effects of the ingestion of star fruit (Averrhoa carambola) in chronic kidney disease patients are well described in the literature. Recently, the compound caramboxin has been isolated, explaining the mechanisms of its neurotoxicity. Bilimbi fruit belongs to the family Oxalidaceae, Averrhoa bilimbi species, and exhibits similar biochemical characteristics to star fruit. OBJECTIVE: To report the case of a patient with chronic kidney disease who developed a seizure disorder after the ingestion of bilimbi fruit...
January 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28168537/hyperkinetic-movement-disorder-emergencies
#9
REVIEW
Giovanni Cossu, Carlo Colosimo
A movement disorder emergency has been defined by Fahn and Frucht as "any neurological disorder evolving acutely or subacutely, in which the clinical presentation is dominated by a primary movement disorder, and in which failure to accurately diagnose and manage the patient may result in significant morbidity or even mortality." In this review, we discuss the most common situations in which hyperkinetic movement disorders, including chorea, ballism, dystonia, myoclonus, tics, as well as psychogenic disorders, can present as emergencies...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28166365/perampanel-in-12-patients-with-unverricht-lundborg-disease
#10
Arielle Crespel, Philippe Gelisse, Ngoc Phuong Loc Tang, Pierre Genton
OBJECTIVE: Perampanel (PER) was used in 12 patients with Unverricht-Lundborg disease (ULD) to evaluate its efficacy against myoclonus and seizures. METHODS: We treated 11 patients with EPM1 mutations (6 F, 5 M, aged 13-62 years) and a 43-year-old man with de novo KCNC1 mutation. PER was introduced by 2 mg steps at 2-4 week intervals until 6 mg/day, with a possible dose reduction or dose increase. RESULTS: Ten patients had a clear clinical response of myoclonus, and five were able to reduce concomitant therapy...
February 6, 2017: Epilepsia
https://www.readbyqxmd.com/read/28163232/prognostic-significance-of-clinical-seizures-after-cardiac-arrest-and-target-temperature-management
#11
Anna Lybeck, Hans Friberg, Anders Aneman, Christian Hassager, Janneke Horn, Jesper Kjærgaard, Michael Kuiper, Niklas Nielsen, Susann Ullén, Matthew P Wise, Erik Westhall, Tobias Cronberg
AIM: Clinical seizures are common after cardiac arrest and predictive of a poor neurological outcome. Seizures may be myoclonic, tonic-clonic or a combination of seizure types. This study reports the incidence and prognostic significance of clinical seizures in the target temperature management (TTM) after cardiac arrest trial. Our hypotheses were that seizures are associated with a poor prognosis and that the incidence of seizures is not affected by the target temperature. METHODS: Post-hoc analysis of reported clinical seizures during day 1-7 in the TTM-trial including their treatment, EEG-findings, and long-term neurological outcome...
February 3, 2017: Resuscitation
https://www.readbyqxmd.com/read/28155872/faithful-sgce-imprinting-in-ipsc-derived-cortical-neurons-an-endogenous-cellular-model-of-myoclonus-dystonia
#12
Karen Grütz, Philip Seibler, Anne Weissbach, Katja Lohmann, Francesca A Carlisle, Derek J Blake, Ana Westenberger, Christine Klein, Anne Grünewald
In neuropathology research, induced pluripotent stem cell (iPSC)-derived neurons are considered a tool closely resembling the patient brain. Albeit in respect to epigenetics, this concept has been challenged. We generated iPSC-derived cortical neurons from myoclonus-dystonia patients with mutations (W100G and R102X) in the maternally imprinted ε-sarcoglycan (SGCE) gene and analysed properties such as imprinting, mRNA and protein expression. Comparison of the promoter during reprogramming and differentiation showed tissue-independent differential methylation...
February 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28147417/neurologic-prognostication-neurologic-examination-and-current-guidelines
#13
Claudio Sandroni, Sonia D'Arrigo
Clinical examination is paramount for prognostication in patients who are comatose after resuscitation from cardiac arrest. At 72 hours from recovery of spontaneous circulation (ROSC), an absent or extensor motor response to pain (M ≤ 2) is a very sensitive, but not specific predictor of poor neurologic outcome. Bilaterally absent pupillary or corneal reflexes are less sensitive, but highly specific predictors. Besides the clinical examination, investigations such as somatosensory evoked potentials (SSEPs), electroencephalography (EEG), blood levels of neuron-specific enolase (NSE), or imaging studies can be used for neuroprognostication...
February 2017: Seminars in Neurology
https://www.readbyqxmd.com/read/28147416/treatment-of-seizures-and-postanoxic-status-epilepticus
#14
Alexandra S Reynolds, Jan Claassen
Seizures are a common occurrence following cardiac arrest and may occur both during targeted temperature management and after rewarming. Postanoxic seizures may be nonconvulsive and very difficult to diagnose without electroencephalography (EEG) or associated with prominent myoclonus. Importantly, to date no randomized controlled trials are available to guide the management of seizures in patients with cardiac arrest. Seizure prophylaxis is not recommended, and when seizures are diagnosed they are typically treated the same as seizures in other patients with acute brain injury...
February 2017: Seminars in Neurology
https://www.readbyqxmd.com/read/28145425/loss-of-function-of-kcnc1-is-associated-with-intellectual-disability-without-seizures
#15
Karine Poirier, Géraldine Viot, Laura Lombardi, Clémence Jauny, Pierre Billuart, Thierry Bienvenu
p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. This KCNC1 variant causes a dominant-negative effect. Here we describe three patients from the same family with intellectual disability and dysmorphic features. The three affected individuals carry a c.1015C>T (p.(Arg339*)) nonsense variant in KCNC1 gene. As previously observed in the mutant mouse carrying a disrupted KCNC1 gene, these findings reveal that individuals with a KCNC1 loss-of-function variant can present intellectual disability without seizure and epilepsy...
February 1, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28139826/neonatal-nonepileptic-myoclonus-is-a-prominent-clinical-feature-of-kcnq2-gain-of-function-variants-r201c-and-r201h
#16
Sarah B Mulkey, Bruria Ben-Zeev, Joost Nicolai, John L Carroll, Sabine Grønborg, Yong-Hui Jiang, Nishtha Joshi, Megan Kelly, David A Koolen, Mohamad A Mikati, Kristen Park, Phillip L Pearl, Ingrid E Scheffer, Rebecca C Spillmann, Maurizio Taglialatela, Silvia Vieker, Sarah Weckhuysen, Edward C Cooper, Maria Roberta Cilio
OBJECTIVE: To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome. METHODS: Ten children with heterozygous, de novo KCNQ2 R201C or R201H variants were identified worldwide, using an institutional review board (IRB)-approved KCNQ2 patient registry and database. We reviewed medical records and, where possible, interviewed parents and treating physicians using a structured, detailed phenotype inventory focusing on the neonatal presentation and subsequent course...
January 31, 2017: Epilepsia
https://www.readbyqxmd.com/read/28138907/sialidosis-type-1-with-a-novel-mutation-in-the-neuraminidase-1-neu1-gene
#17
Vykuntaraju K Gowda, Varun M Srinivasan, Naveen Benakappa, Asha Benakappa
A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots. MRI of the brain and electroencephalogram were normal. The enzyme analysis revealed deficiency of neuraminidase. Genetic analysis identified novel homozygous missense mutation c.742G > T (p.G248C) in exon 4 of NEU1 gene...
January 31, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28126647/movement-activated-cortical-myoclonus-in-dravet-syndrome
#18
Laura Canafoglia, Francesca Ragona, Ferruccio Panzica, Elena Piazza, Elena Freri, Simona Binelli, Vidmer Scaioli, Giuliano Avanzini, Tiziana Granata, Silvana Franceschetti
PURPOSE: we characterized multifocal myoclonus in Dravet syndrome (DS) that was never systematically typified before. METHODS: we studied EEG-EMG recordings of 19 consecutive patients, aged 2-29 years, with DS associated with SCN1A gene mutations to detect and evaluate myoclonus based on the spectrum of EMG activity on antagonist muscle pairs and cortico-muscular coherence (CMC). RESULTS: multifocal action myoclonus was detected in all patients corresponding to brief EMG bursts, which occurred synchronously on antagonist muscles at a frequency peaking in beta band...
January 19, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28124668/treatment-of-cefuroxime-induced-neurotoxicity-with-continuous-venovenous-haemofiltration
#19
D G H A van Dam, D M T Burgers, N Foudraine, P K C Janssen, C Neef, J L M L le Noble
A 61-year-old woman with decreased consciousness, myoclonus, tremors, nystagmus and bradypnoea, due to cefuroxime-induced neurotoxicity, was admitted to the intensive care unit. Continuous venovenous haemofiltration (CVVH) rapidly reduced plasma cefuroxime concentrations and improved neurological manifestations within the next few hours. Retrospective pharmacokinetic assessment showed a total cefuroxime clearance of 166 ml/min during the CVVH.
January 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28122425/multifocal-myoclonus-as-a-manifestation-of-acute-cerebral-infarction-recovered-by-carotid-arterial-stenting
#20
Hyangkyoung Kim, Jun Soo Byun, Mark Hallett, Hae-Won Shin
No abstract text is available yet for this article.
January 2017: Journal of Movement Disorders
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