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Alternant hemiplegia

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https://www.readbyqxmd.com/read/28338584/spring-assisted-cranioplasty-for-the-correction-of-non-syndromic-scaphocephaly-a-quantitative-analysis-of-100-consecutive-cases
#1
W Rodgers, G E Glass, S Schievano, A Borghi, N Rodriguez-Florez, A Tahim, F Angullia, W Breakey, P Knoops, M Tenhagen, J O'Hara, A Ponniah, G James, D J Dunaway, Nuo Jeelani
BACKGROUND: Spring-assisted cranioplasty has been proposed as an alternative to total calvarial remodelling for sagittal craniosynostosis. Advantages include its minimally invasive nature, 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. We present a single institution experience of 100 consecutive cases using a novel spring design. METHODS: All patients treated at our institution between April 2010 and September 2014 were evaluated retrospectively...
March 3, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28337648/diagnosis-and-treatment-of-alternating-hemiplegia-of-childhood
#2
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
#3
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
#4
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)...
March 6, 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
#5
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...
February 26, 2017: Brain & Development
https://www.readbyqxmd.com/read/28248916/light-induced-hemiplegia-an-atypical-case-of-retinal-steal-syndrome
#6
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
https://www.readbyqxmd.com/read/28178170/use-of-susceptibility-weighted-imaging-in-assessing-ischemic-penumbra-a-case-report
#7
Xiujuan Wu, Song Luo, Ying Wang, Yang Chen, Jun Liu, Jing Bai, Jiachun Feng, Hongliang Zhang
RATIONALE: The ischemic penumbra assessment is essential for the subsequent therapy and prediction of evolution in patients with acute ischemic infraction. Although controversial as a perfect equivalence to penumbra, perfusion-weighted imaging (PWI)-diffusion-weighted imaging (DWI) mismatch may predict the response to thrombolysis. Due to the reliance of PWI on contrast agents, noninvasive alternatives remain an unmet need. PATIENT CONCERNS: We reported a 65-year-old man complained of paroxysmal hemiplegia of his right limbs and anepia for 2 days, whereas the symptoms lasted for about 12 hours when he admitted to the hospital...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28163531/alternating-hemiplegia-of-childhood-in-a-child-misdiagnosed-as-intractable-epilepsy
#8
Faruk Incecık, Ozlem M Herguner
No abstract text is available yet for this article.
December 2016: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28129950/eeg-findings-during-paroxysmal-hemiplegia-in-a-patient-with-glut1-deficiency
#9
S Pellegrin, G Cantalupo, R Opri, B Dalla Bernardina, F Darra
BACKGROUND: A growing number of studies have disclosed the myriad of features that can suggest the diagnosis of a Glucose-transporter-1 deficiency (GLUT1D). The occurrence of paroxysmal movement disorders such as exercise-induced dystonia and non-kinesigenic dyskinesia, received considerable emphasis, while limited attention has been paid to other paroxysmal phenomena, as transitory neurological disorders. These paroxysmal events are roughly and variably described as limb weakness, hemiparesis or ataxia...
January 17, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27990247/bci-triggered-functional-electrical-stimulation-therapy-for-upper-limb
#10
Cesar Marquez-Chin, Aaron Marquis, Milos R Popovic
We present here the integration of brain-computer interfacing (BCI) technology with functional electrical stimulation therapy to restore voluntary function. The system was tested with a single man with chronic (6 years) severe left hemiplegia resulting from a stroke. The BCI, implemented as a simple "brain-switch" activated by power decreases in the 18 Hz - 28 Hz frequency range of the participant's electroencephalograpic signals, triggered a neuroprosthesis designed to facilitate forward reaching, reaching to the mouth, and lateral reaching movements...
June 13, 2016: European Journal of Translational Myology
https://www.readbyqxmd.com/read/27931826/alternating-hemiplegia-of-childhood-as-a-new-presentation-of-adenylate-cyclase-5-mutation-associated-disease-a-report-of-two-cases
#11
Ana Westenberger, Christoph Max, Norbert Brüggemann, Aloysius Domingo, Karen Grütz, Heike Pawlack, Anne Weissbach, Andrea A Kühn, Juliane Spiegler, Anthony E Lang, Jürgen Sperner, Victor S C Fung, Jens Schallner, Gabriele Gillessen-Kaesbach, Alexander Münchau, Christine Klein
Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.
December 6, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27790405/trans-radial-carotid-artery-stenting-in-a-patient-with-abdominal-aortic-occlusion
#12
Jin Heon Ha, Hoon Kim, Ik Seong Park, Seong-Rim Kim
We report transradial access (TRA) for emergency carotid artery stenting (CAS) as a useful alternative when the femoral artery cannot be accessed. A 63-year-old man arrived at our emergency room 30 minutes after left hemiplegia and loss of consciousness. Brain computed tomography (CT) anigograpy showed occlusion of the right interntal carotid artery (ICA) and CT perfusion revealed delayed time-to-peak in the territory of the middle cerebral artery. For, endovascular treatment, trans-femoral access (TFA) was attempted but failed due to occlusion of the abdominal aorta...
June 2016: Journal of Cerebrovascular and Endovascular Neurosurgery
https://www.readbyqxmd.com/read/27726050/mosaicism-in-atp1a3-related-disorders-not-just-a-theoretical-risk
#13
Marie Hully, Juliette Ropars, Laurence Hubert, Nathalie Boddaert, Marlene Rio, Mathieu Bernardelli, Isabelle Desguerre, Valerie Cormier-Daire, Arnold Munnich, Pascale de Lonlay, Louise Reilly, Claude Besmond, Nadia Bahi-Buisson
Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases of de novo sporadic mutations. In contrast, autosomal dominant inheritance has frequently been associated with RDP and CAPOS...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/27676798/ultrasound-guided-injection-of-botulinum-toxin-in-upper-limb-experience-of-pmr-departement
#14
Samira Lahrabli, Herman Azanmasso, Fatima Lmidmani, Abdellatif El Fatimi
OBJECTIVE: Spasticity of the upper limb is a disabling symptom in patients with vascular hemiplegia, both functionally and orthopedic evolution of these patients. Many treatments exist for spasticity, and botulinum toxin may be an attractive therapeutic alternative, to fight against the often deleterious spasticity. MATERIAL/PATIENTS AND METHODS: We report a retrospective work of 10 spastic patients treated with ultrasound-guided injection of botulinum toxin into the MPR Casablanca service...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27634470/de-novo-p-arg756cys-mutation-of-atp1a3-causes-an-atypical-form-of-alternating-hemiplegia-of-childhood-with-prolonged-paralysis-and-choreoathetosis
#15
Hikaru Kanemasa, Ryoko Fukai, Yasunari Sakai, Michiko Torio, Noriko Miyake, Sooyoung Lee, Hiroaki Ono, Satoshi Akamine, Kei Nishiyama, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara
BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndromes. It remains to be determined whether or not a rare mutation in ATP1A3 may cause atypical phenotypes...
September 15, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27626066/a-novel-de-novo-mutation-in-atp1a3-and-childhood-onset-schizophrenia
#16
Niklas Smedemark-Margulies, Catherine A Brownstein, Sigella Vargas, Sahil K Tembulkar, Meghan C Towne, Jiahai Shi, Elisa Gonzalez-Cuevas, Kevin X Liu, Kaya Bilguvar, Robin J Kleiman, Min-Joon Han, Alcy Torres, Gerard T Berry, Timothy W Yu, Alan H Beggs, Pankaj B Agrawal, Joseph Gonzalez-Heydrich
We describe a child with onset of command auditory hallucinations and behavioral regression at 6 yr of age in the context of longer standing selective mutism, aggression, and mild motor delays. His genetic evaluation included chromosomal microarray analysis and whole-exome sequencing. Sequencing revealed a previously unreported heterozygous de novo mutation c.385G>A in ATP1A3, predicted to result in a p.V129M amino acid change. This gene codes for a neuron-specific isoform of the catalytic α-subunit of the ATP-dependent transmembrane sodium-potassium pump...
September 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27621518/morbidity-profile-of-elderly-outpatients-attending-selected-sub-district-siddha-health-facilities-in-tamil-nadu-india
#17
Kalaiselvi Selvaraj, Manikandan Srinivasan, Venkatachalam Duraisamy, Gomathi Ramaswamy, Vinayagamurthy Venugopal, Palanivel Chinnakali
BACKGROUND: Recently, under National Health Mission alternate systems of Medicine are mainstreamed in public health care system. Effective action plan generation, logistic arrangement and roll out of these alternate systems of Medicine needs understanding on profile of morbidities among attendees who come to these facilities. OBJECTIVES: This study was planned to report profile of morbidities, age and sex differentials in specific morbidities among geriatric attendees in secondary level siddha health facilities...
April 2016: Ancient Science of Life
https://www.readbyqxmd.com/read/27549929/cognitive-deficits-caused-by-a-disease-mutation-in-the-%C3%AE-3-na-k-atpase-isoform
#18
Thomas Hellesøe Holm, Toke Jost Isaksen, Simon Glerup, Anders Heuck, Pernille Bøttger, Ernst-Martin Füchtbauer, Steen Nedergaard, Jens Randel Nyengaard, Mogens Andreasen, Poul Nissen, Karin Lykke-Hartmann
The Na(+)/K(+)-ATPases maintain Na(+) and K(+) electrochemical gradients across the plasma membrane, a prerequisite for electrical excitability and secondary transport in neurons. Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific Na(+)/K(+)-ATPase α3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, dystonia, ataxia, hyperactivity, epileptic seizures, and cognitive deficits...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27530980/a-single-session-of-mirror-based-tactile-and-motor-training-improves-tactile-dysfunction-in-children-with-unilateral-cerebral-palsy-a-replicated-randomized-controlled-case-series
#19
Megan L Auld, Leanne M Johnston, Remo N Russo, G Lorimer Moseley
INTRODUCTION: This replicated randomized controlled crossover case series investigated the effect of mirror-based tactile and motor training on tactile registration and perception in children with unilateral cerebral palsy (UCP). METHODS: Six children with UCP (6-18 years; median 10 years, five male, three-left hemiplegia, four-manual ability classification system (MACS) I, one MACS II and one MACS III) participated. They attended two 90-minute sessions - one of mirror-based training and one of standard practice, bimanual therapy - in alternated order...
August 17, 2016: Physiotherapy Research International: the Journal for Researchers and Clinicians in Physical Therapy
https://www.readbyqxmd.com/read/27477418/alternating-hemiplegia-with-ipsilateral-supranuclear-facial-palsy-and-abducens-nerve-palsy-caused-by-pontine-infarction
#20
Shinichiro Maeshima, Tetsuya Tsunoda, Sayaka Okamoto, Yasunori Ozeki, Shigeru Sonoda
A 62-year-old right-handed man was diagnosed with a cerebral infarction in the ventromedial region of the left lower pons. He showed left abducens nerve palsy, left-sided supranuclear palsy of the lower part of the face and right hemiparesis. We hypothesized that the mechanism underlying the patient's ipsilateral supranuclear facial palsy involved the corticofacial fibers after they crossed the midline.
2016: Internal Medicine
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