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Alternant hemiplegia

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https://www.readbyqxmd.com/read/27790405/trans-radial-carotid-artery-stenting-in-a-patient-with-abdominal-aortic-occlusion
#1
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
#2
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...
October 10, 2016: Neurogenetics
https://www.readbyqxmd.com/read/27676798/ultrasound-guided-injection-of-botulinum-toxin-in-upper-limb-experience-of-pmr-departement
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/27378932/insights-into-the-pathology-of-the-%C3%AE-3-na-k-atpase-ion-pump-in-neurological-disorders-lessons-from-animal-models
#10
REVIEW
Thomas H Holm, Karin Lykke-Hartmann
The transmembrane Na(+)-/K(+) ATPase is located at the plasma membrane of all mammalian cells. The Na(+)-/K(+) ATPase utilizes energy from ATP hydrolysis to extrude three Na(+) cations and import two K(+) cations into the cell. The minimum constellation for an active Na(+)-/K(+) ATPase is one alpha (α) and one beta (β) subunit. Mammals express four α isoforms (α1-4), encoded by the ATP1A1-4 genes, respectively. The α1 isoform is ubiquitously expressed in the adult central nervous system (CNS) whereas α2 primarily is expressed in astrocytes and α3 in neurons...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27348139/successful-corticosteroid-treatment-of-refractory-spontaneous-vasoconstriction-of-extracranial-internal-carotid-and-coronary-arteries
#11
Mariko Takeuchi, Kozue Saito, Katsufumi Kajimoto, Kazuyuki Nagatsuka
INTRODUCTION: Spontaneous vasoconstriction of the extracranial internal carotid artery (SVEICA) is a rare cause of cerebral infarction. Most patients with SVEICA suffer recurrent attacks of vasoconstriction. The standard treatment for this condition has not been established and its long-term prognosis is unclear. CASE REPORT: A 25-year-old man with a history of refractory vasospasm angina presented with transient alternating hemiplegia in both the right and left side...
July 2016: Neurologist
https://www.readbyqxmd.com/read/27313535/the-influence-of-na-k-atpase-on-glutamate-signaling-in-neurodegenerative-diseases-and-senescence
#12
REVIEW
Paula F Kinoshita, Jacqueline A Leite, Ana Maria M Orellana, Andrea R Vasconcelos, Luis E M Quintas, Elisa M Kawamoto, Cristoforo Scavone
Decreased Na(+), K(+)-ATPase (NKA) activity causes energy deficiency, which is commonly observed in neurodegenerative diseases. The NKA is constituted of three subunits: α, β, and γ, with four distinct isoforms of the catalytic α subunit (α1-4). Genetic mutations in the ATP1A2 gene and ATP1A3 gene, encoding the α2 and α3 subunit isoforms, respectively can cause distinct neurological disorders, concurrent to impaired NKA activity. Within the central nervous system (CNS), the α2 isoform is expressed mostly in glial cells and the α3 isoform is neuron-specific...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27312461/recognizable-facial-features-in-patients-with-alternating-hemiplegia-of-childhood
#13
Fiorella Gurrieri, Francesco Danilo Tiziano, Giuseppe Zampino, Giovanni Neri
Alternating hemiplegia of childhood is an early onset neurodevelopmental disorder characterized by paroxystic episodes of alternating hemiplegia, variable degrees of intellectual disability, and dystonic movements. The main causative gene, ATP1A3, is also responsible for other neurodevelopmental disorders. While the neurological profile of this condition is well defined, the question whether a recognizable pattern of physical anomalies does exist in this condition is still open. We performed a morphological evaluation of 30 patients at different ages...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27276195/deficits-in-social-behavioral-tests-in-a-mouse-model-of-alternating-hemiplegia-of-childhood
#14
Greer S Kirshenbaum, Nagi F Idris, James Dachtler, John C Roder, Steven J Clapcote
Social behavioral deficits have been observed in patients diagnosed with alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism and CAPOS syndrome, in which specific missense mutations in ATP1A3, encoding the Na(+), K(+)-ATPase α3 subunit, have been identified. To test the hypothesis that social behavioral deficits represent part of the phenotype of Na(+), K(+)-ATPase α3 mutations, we assessed the social behavior of the Myshkin mouse model of AHC, which has an I810N mutation identical to that found in an AHC patient with co-morbid autism...
March 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27149744/-characteristic-asymmetric-abnormal-eye-movement-and-dystonic-posture-as-the-first-symptoms-of-alternating-hemiplegia-of-childhood
#15
Takahiro Motoki, Masayuki Sasaki, Atsushi Ishii, Shinichi Hirose
A 3-month-old girl exhibited asymmetric abnormal eye movement and unilateral dystonic posture intermittently after the first few days of life. Unilateral ocular deviation or nystagmus were the main signs of abnormal eye movements. She was suspected to have alternating hemiplegia of childhood (AHC) despite the absence of apparent alternating hemiplegic episodes. Gene analysis revealed a de-novo missense mutation (Asp801Asn) of ATP1A3. AHC is a rare neurodevelopmental disorder characterized by recurrent transient attacks of hemiplegia affecting the unilateral or bilateral side of the body; in most cases, these attacks begin in the first 6 months of life...
March 2016: No to Hattatsu. Brain and Development
https://www.readbyqxmd.com/read/27148079/managing-brain-extracellular-k-during-neuronal-activity-the-physiological-role-of-the-na-k-atpase-subunit-isoforms
#16
REVIEW
Brian Roland Larsen, Anca Stoica, Nanna MacAulay
During neuronal activity in the brain, extracellular K(+) rises and is subsequently removed to prevent a widespread depolarization. One of the key players in regulating extracellular K(+) is the Na(+)/K(+)-ATPase, although the relative involvement and physiological impact of the different subunit isoform compositions of the Na(+)/K(+)-ATPase remain unresolved. The various cell types in the brain serve a certain temporal contribution in the face of network activity; astrocytes respond directly to the immediate release of K(+) from neurons, whereas the neurons themselves become the primary K(+) absorbers as activity ends...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27146299/treatment-with-oral-atp-decreases-alternating-hemiplegia-of-childhood-with-de-novo-atp1a3-mutation
#17
Jun Ju, Shinichi Hirose, Xiu-Yu Shi, Atsushi Ishii, Lin-Yan Hu, Li-Ping Zou
BACKGROUND: Alternating hemiplegia of childhood is an intractable neurological disorder characterized by recurrent episodes of alternating hemiplegia accompanied by other paroxysmal symptoms. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. Adenosine-5'-triphosphate has a vasodilatory effect, can enhance muscle strength and physical performance, and was hypothesized to improve the symptoms of paroxysmal hemiplegia. METHODS: A 7-year-old boy with alternating hemiplegia of childhood who was positive for a de novo ATP1A3 mutation was treated with adenosine- 5'- triphosphate supplementation orally as an innovative therapy for 2 years...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27017017/complicated-migraines
#18
Alyssa E Blumenfeld, M Cristina Victorio, Frank R Berenson
Migraines are a common paroxysmal disorder that may present with a multitude of neurologic symptoms. Migraines have been re-categorized in the most recent edition of the International Classification of Headache Disorders. In this article, we review the literature on hemiplegic migraines, alternating hemiplegia of childhood, migraine with brainstem aura, retinal migraine, ophthalmoplegic migraine, Alice in Wonderland syndrome, and acute confusional migraine. We also discuss the principal clinical features, diagnostic criteria, and treatment options for these disorders...
February 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/26999520/spontaneously-fluctuating-motor-cortex-excitability-in-alternating-hemiplegia-of-childhood-a-transcranial-magnetic-stimulation-study
#19
William M Stern, Mahalekshmi Desikan, Damon Hoad, Fatima Jaffer, Gionata Strigaro, Josemir W Sander, John C Rothwell, Sanjay M Sisodiya
BACKGROUND: Alternating hemiplegia of childhood is a very rare and serious neurodevelopmental syndrome; its genetic basis has recently been established. Its characteristic features include typically-unprovoked episodes of hemiplegia and other transient or more persistent neurological abnormalities. METHODS: We used transcranial magnetic stimulation to assess the effect of the condition on motor cortex neurophysiology both during and between attacks of hemiplegia...
2016: PloS One
https://www.readbyqxmd.com/read/26933607/alternating-hemiplegia-and-cardiac-dysrhythmia
#20
J Gordon Millichap
Investigators at the National Hospital for Neurology and Neurosurgery, Queen Square, London, and multiple centers in the UK, Europe, US, Melbourne, Australia, and Canada, analyzed ECG recordings of 52 patients with alternating hemiplegia from 9 countries; all had whole-exome, whole-genome, or direct Sanger sequencing of ATP1A3; 47 had a confirmed missense mutation in ATP1A3.
September 2015: Pediatric neurology briefs
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