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Alternant hemiplegia

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https://www.readbyqxmd.com/read/29031830/action-observation-facilitates-motor-cortical-activity-in-patients-with-stroke-and-hemiplegia
#1
Marina Tani, Yumie Ono, Miku Matsubara, Satoko Ohmatsu, Yoshihiro Yukawa, Masashi Kohno, Takanori Tominaga
Motor imagery (MI) is a mental practice that reproduces the visual- and/or kinesthetic-modality brain activations accompanying movement. It is a useful rehabilitation technique as the affected motor cortex can be stimulated in patients with stroke and hemiplegia. However, most patients with stroke have difficulty with MI owing to advanced age and/or higher-cognitive dysfunction, thus impairing their ability to internally simulate the action. We therefore investigated whether action observation (AO), an alternative form of motor stimulation that works via the mirror-neuron system, could facilitate motor cortical activity in such patients...
October 12, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/28988699/disruption-of-ankyrin-b-and-caveolin-1-interaction-sites-alters-na-k-atpase-membrane-diffusion
#2
Cornelia Junghans, Vladana Vukojević, Neslihan N Tavraz, Eugene G Maksimov, Werner Zuschratter, Franz-Josef Schmitt, Thomas Friedrich
The Na(+),K(+)-ATPase is a plasma membrane ion transporter of high physiological importance for ion homeostasis and cellular excitability in electrically active tissues. Mutations in the genes coding for Na(+),K(+)-ATPase α-subunit isoforms lead to severe human pathologies including Familial Hemiplegic Migraine type 2, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia Parkinsonism, or epilepsy. Many of the reported mutations lead to change- or loss-of-function effects, whereas others do not alter the functional properties, but lead to, e...
October 5, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28969699/a-randomized-controlled-double-blind-crossover-trial-of-triheptanoin-in-alternating-hemiplegia-of-childhood
#3
Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz, Mohamed Doulazmi, Anne Roubergue, Jean-Christophe Corvol, Marie Vidailhet, Fanny Mochel, Emmanuel Roze
BACKGROUND: Based on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations. METHODS: We conducted a randomized, double-blind, placebo-controlled crossover study of triheptanoin, at a target dose corresponding to 30% of daily calorie intake, in ten patients with alternating hemiplegia of childhood due to ATP1A3 mutations...
October 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28900444/more-than-a-decade-of-misdiagnosis-of-alternating-hemiplegia-of-childhood-with-catastrophic-outcome
#4
Hussein Algahtani, Bashair Ibrahim, Bader Shirah, Ahmad Aldarmahi, Ahad Abdullah
Alternating hemiplegia of childhood (AHC) is a distinct clinical disorder characterized by recurrent episodes of hemiplegia, abnormal ocular movement, and progressive developmental delay. It is an extremely rare genetic disorder related to ATP1A3 gene mutations. In this paper, we present a case of AHC in which the diagnosis was missed for many years until severe hypoxic brain insult occurred from prolonged status epilepticus. Not only we are presenting an interesting clinical entity and radiological images, but also we are shedding the light on a rare genetic disease with catastrophic sequelae...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28899462/-diagnosis-of-alternating-hemiplegia-of-childhood
#5
Rong Luo
No abstract text is available yet for this article.
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28899461/-alternating-hemiplegia-of-childhood-and-epilepsy-in-an-infant
#6
Hui Chen, Ping Liu, Wen-Guang Hu, Jia Deng, Yan-Juan Wang
No abstract text is available yet for this article.
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28811059/an-infant-with-epilepsy-and-recurrent-hemiplegia-due-to-compound-heterozygous-variants-in-atp1a2
#7
Colin Wilbur, Sarah E Buerki, Ilaria Guella, Eric B Toyota, Daniel M Evans, Marna B McKenzie, Anita Datta, Aspasia Michoulas, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Matthew J Farrer, Mary B Connolly, Michelle Demos
BACKGROUND: Pathogenic heterozygous variants in the ATP1A2 gene have most commonly been associated with familial hemiplegic migraine. However, a wide spectrum of phenotypes that include alternating hemiplegia of childhood and epilepsy have been described. PATIENT DESCRIPTION: We describe a boy who presented at age three months with a complex phenotype that included epilepsy, nonepileptic paroxysmal events, and recurrent hemiplegia. Magnetic resonance imaging demonstrated unilateral cortical edema during a severe episode of hemiplegia that was followed by a persistent mild hemiparesis...
June 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28756061/assessment-of-acute-motor-deficit-in-the-pediatric-emergency-room
#8
REVIEW
Marcio Moacyr Vasconcelos, Luciana G A Vasconcelos, Adriana Rocha Brito
OBJECTIVES: This review article aimed to present a clinical approach, emphasizing the diagnostic investigation, to children and adolescents who present in the emergency room with acute-onset muscle weakness. SOURCES: A systematic search was performed in PubMed database during April and May 2017, using the following search terms in various combinations: "acute," "weakness," "motor deficit," "flaccid paralysis," "child," "pediatric," and "emergency". The articles chosen for this review were published over the past ten years, from 1997 through 2017...
July 27, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28647130/fever-induced-paroxysmal-weakness-and-encephalopathy-a-new-phenotype-of-atp1a3-mutation
#9
Sho T Yano, Kenneth Silver, Richard Young, Suzanne D DeBrosse, Roseànne S Ebel, Kathryn J Swoboda, Gyula Acsadi
BACKGROUND: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants...
August 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28637637/alternating-hemiplegia-of-childhood-and-a-pathogenic-variant-of-atp1a3-a-case-report-and-pathophysiological-considerations
#10
Elena Pavlidis, Peter Uldall, Camilla Gøbel Madsen, Marina Nikanorova, Martin Fabricius, Hans Høgenhaven, Francesco Pisani, Rikke S Møller, Elena Gardella, Guido Rubboli
We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side. A severe epilepsy started at the age of 2 years with episodes of status epilepticus since the onset which frequently recurred, requiring admission to the intensive care unit...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28556907/challenges-describing-motor-profiles-in-alternating-hemiplegia-of-childhood
#11
COMMENT
Lucy Alderson
No abstract text is available yet for this article.
August 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28543714/motor-function-domains-in-alternating-hemiplegia-of-childhood
#12
Melanie Masoud, Kelly Gordon, Amanda Hall, Joan Jasien, Kara Lardinois, Julie Uchitel, Melissa Mclean, Lyndsey Prange, Jeffrey Wuchich, Mohamad A Mikati
AIM: To characterize motor function profiles in alternating hemiplegia of childhood, and to investigate interrelationships between these domains and with age. METHOD: We studied a cohort of 23 patients (9 males, 14 females; mean age 9y 4mo, range 4mo-43y) who underwent standardized tests to assess gross motor, upper extremity motor control, motor speech, and dysphagia functions. RESULTS: Gross Motor Function Classification System (GMFCS), Gross Motor Function Measure-88 (GMFM-88), Manual Ability Classification System (MACS), and Revised Melbourne Assessment (MA2) scales manifested predominantly mild impairments; motor speech, moderate to severe; Modified Dysphagia Outcome and Severity Scale (M-DOSS), mild-to moderate deficits...
August 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28472154/hypothermia-induced-dystonia-and-abnormal-cerebellar-activity-in-a-mouse-model-with-a-single-disease-mutation-in-the-sodium-potassium-pump
#13
Toke Jost Isaksen, Lieke Kros, Natascia Vedovato, Thomas Hellesøe Holm, Ariel Vitenzon, David C Gadsby, Kamran Khodakhah, Karin Lykke-Hartmann
Mutations in the neuron-specific α3 isoform of the Na+/K+-ATPase are found in patients suffering from Rapid onset Dystonia Parkinsonism and Alternating Hemiplegia of Childhood, two closely related movement disorders. We show that mice harboring a heterozygous hot spot disease mutation, D801Y (α3+/D801Y), suffer abrupt hypothermia-induced dystonia identified by electromyographic recordings. Single-neuron in vivo recordings in awake α3+/D801Y mice revealed irregular firing of Purkinje cells and their synaptic targets, the deep cerebellar nuclei neurons, which was further exacerbated during dystonia and evolved into abnormal high-frequency burst-like firing...
May 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28465228/knockout-of-sodium-pump-%C3%AE-3-subunit-gene-atp1a3-results-in-perinatal-seizure-and-defective-respiratory-rhythm-generation
#14
Keiko Ikeda, Hiroshi Onimaru, Kiyoshi Kawakami
ATP1A3 encodes a neuron-specific human α3 subunit isoform of the sodium pump that plays an important role in neuronal excitability. Point and deletion mutations in ATP1A3 have been recognized in diverse neurological disorders. Three ATP1A3 disorders, alternating hemiplegia of childhood (AHC); apnea; and severe infantile epileptic encephalopathy often appear shortly after birth. To gain insight into the pathophysiology of these disorders and to understand the functional roles of the sodium pump α3 subunit in the brain in vivo during this period of development, we examined the phenotype of Atp1a3 knockout homozygous mouse fetuses (Atp1a3(-/-))...
April 29, 2017: Brain Research
https://www.readbyqxmd.com/read/28338584/spring-assisted-cranioplasty-for-the-correction-of-nonsyndromic-scaphocephaly-a-quantitative-analysis-of-100-consecutive-cases
#15
Will Rodgers, Graeme E Glass, Silvia Schievano, Alessandro Borghi, Naiara Rodriguez-Florez, Arpan Tahim, Freida Angullia, William Breakey, Paul Knoops, Maik Tenhagen, Justine O'Hara, Allan Ponniah, Gregory James, David J Dunaway, N U Owase Jeelani
BACKGROUND: Spring-assisted cranioplasty has been proposed as an alternative to total calvarial remodeling for sagittal craniosynostosis. Advantages include its minimally invasive nature, and reduced morbidity and hospital stay. Potential drawbacks include the need for a second procedure for removal and the lack of published long-term follow-up. The authors present a single-institution experience of 100 consecutive cases using a novel spring design. METHODS: All patients treated at the authors' institution between April of 2010 and September of 2014 were evaluated retrospectively...
July 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28337648/diagnosis-and-treatment-of-alternating-hemiplegia-of-childhood
#16
REVIEW
Melanie Masoud, Lyndsey Prange, Jeffrey Wuchich, Arsen Hunanyan, Mohamad A Mikati
The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important...
February 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28293679/research-conference-summary-from-the-2014-international-task-force-on-atp1a3-related-disorders
#17
Hendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, Kevin Ess, Laurie Ozelius, Eva Andermann, Frederick Andermann, Gene Andrasco, Alice Belgrade, Allison Brashear, Sharon Ciccodicola, Lynn Egan, Alfred L George, Aga Lewelt, Joshua Magelby, Mario Merida, Tara Newcomb, Vicky Platt, Dominic Poncelin, Sandra Reyna, Masayuki Sasaki, Marcio Sotero de Menezes, Kathleen Sweadner, Louis Viollet, Mary Zupanc, Kenneth Silver, Kathryn Swoboda
OBJECTIVE: ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism. METHODS: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28292732/alternating-hemiplegia-and-epilepsia-partialis-continua-a-new-phenotype-for-a-novel-compound-tbc1d24-mutation
#18
Francesca Ragona, Barbara Castellotti, Barbara Salis, Stefania Magri, Jacopo C DiFrancesco, Nardo Nardocci, Silvana Franceschetti, Cinzia Gellera, Tiziana Granata
Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) target re-sequencing gene approach, the DNA of a 5 year-old girl, affected by recurrent attacks of Alternating Hemiplegia (AH) and by recurrent episodes of Epilepsia Partialis Continua (EPC)...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28249736/alternating-hemiplegia-of-childhood-pharmacological-treatment-of-30-italian-patients
#19
Livia Pisciotta, Marcella Gherzi, Michela Stagnaro, Maria Grazia Calevo, Melania Giannotta, Maria Rosaria Vavassori, Edvige Veneselli, Elisa De Grandis
BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is a severe disorder. Several drugs have been administered as prophylaxis for paroxysmal attacks, however, no therapy is completely effective. METHODS: Our aim is to review the pharmacological data related to the prophylactic and acute treatment of a cohort of 30 patients (16M, 14F, age range 5-42years) and to correlate them with the clinical and genetic data collected through the Italian Biobank and Clinical Registry for AHC...
June 2017: Brain & Development
https://www.readbyqxmd.com/read/28248916/light-induced-hemiplegia-an-atypical-case-of-retinal-steal-syndrome
#20
David Kerek, Sami Al Kasab, Michael U Antonucci, Raymond D Turner, Tanya N Turan
Atherosclerosis affecting the carotid arteries accounts for up to 20% of ischemic strokes 1. The clinical effects of atherosclerotic occlusive disease vary according to multiple factors, one of which is collateral circulation. In response to a chronic decrease in cerebral perfusion from atherosclerotic occlusion, alternative flow pathways, or collaterals, develop in a variety of patterns. In the setting of carotid occlusion, flow from the Circle of Willis, if complete, often comprises the main cerebral collateral network...
March 2017: Neurologist
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