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https://www.readbyqxmd.com/read/29925719/endovascular-intervention-in-basilar-artery-entrapment-within-the-longitudinal-clivus-fracture-a-case-report
#1
Fumiaki Kanamori, Takashi Yamanouchi, Yuya Kano, Naoki Koketsu
Although vascular complications after head trauma is well recognized, basilar artery entrapment within the longitudinal clivus fracture is rare. A 69-year-old man presented with progressive disturbance of consciousness and right hemiplegia after trauma. Computed tomography scan showed a right-sided acute subdural hematoma and multiple skull fractures, including a longitudinal clivus fracture. Magnetic resonance imaging revealed basilar artery occlusion and a small infarction at the ventral part of the pons...
June 20, 2018: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/29923089/extrapolation-of-variant-phase-in-mitochondrial-short-chain-enoyl-coa-hydratase-echs1-deficiency
#2
Colleen M Carlston, Sacha Ferdinandusse, Judith A Hobert, Rong Mao, Nicola Longo
Loss-of-function and hypomorphic ECHS1 variants are associated with mitochondrial short-chain enoyl-CoA hydratase deficiency, an inborn error of valine metabolism. We report an 8-year-old boy with developmental delay, ataxia, hemiplegia, and hearing loss with abnormalities in the basal ganglia. Biochemical studies were essentially normal except for a persistent mildly elevated CSF alanine. This patient demonstrates an intermediate phenotype between a Leigh-like, early-onset presentation and paroxysmal exercise-induced dyskinesia...
June 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29922587/-de-novo-atp1a3-and-compound-heterozygous-nlrp3-mutations-in-a-child-with-autism-spectrum-disorder-episodic-fatigue-and-somnolence-and-muckle-wells-syndrome
#3
Alcy Torres, Catherine A Brownstein, Sahil K Tembulkar, Kelsey Graber, Casie Genetti, Robin J Kleiman, Kathleen J Sweadner, Chrystal Mavros, Kevin X Liu, Niklas Smedemark-Margulies, Kiran Maski, Edward Yang, Pankaj B Agrawal, Jiahai Shi, Alan H Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A Gahl, Catherine M Biggs, Kathryn J Swoboda, Gerard T Berry, Joseph Gonzalez-Heydrich
Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and Muckle-Wells syndrome who at age 5  years of age manifested perseverations that interfered with his functioning at home and at school. After age 6, he developed intermittent episodes of fatigue and somnolence lasting from hours to weeks that evolved over the course of months to more chronic hypersomnia...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29909214/classification-and-protection-of-peritumoral-draining-veins-of-parasagittal-and-falcine-meningiomas
#4
Xuan Wang, Meng-Yang Wang, Kang Qian, Long Chen, Fang-Cheng Zhang
OBJECTIVE: This study aims to investigate the importance and types of peritumoral draining veins in parasagittal and falcine meningiomas, and administer corresponding protective strategies during surgery according to these different types, in order to improve tumor resection rate and maximize the protection of neurological functions. METHODS: The clinical information of 156 patients with parasagittal and falcine meningiomas, who were admitted at the Neurosurgery Department of our hospital, was collected and retrospectively analyzed...
June 14, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29898587/how-effective-is-physical-therapy-for-gait-muscle-activity-in-hemiparetic-patients-who-receive-botulinum-toxin-injections
#5
Kazuki Fujita, Hiroichi Miaki, Hideaki Hori, Yasutaka Kobayashi, Takao Nakagawa
BACKGROUND: Administration of botulinum neurotoxin A (BoNT-A) to the ankle plantar flexors in patients with hemiplegia reduces the strength of knee extension, which may decrease their walking ability. Studies have reported improvements in walking ability with physical therapy following BoNT-A administration. However, no previous studies have evaluated from an exercise physiology perspective the efficacy of physical therapy after BoNT-A administration for adult patients with hemiplegia...
June 11, 2018: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29895895/missense-variants-in-atp1a3-and-fxyd-gene-family-are-associated-with-childhood-onset-schizophrenia
#6
Boris Chaumette, Vladimir Ferrafiat, Amirthagowri Ambalavanan, Alice Goldenberg, Alexandre Dionne-Laporte, Dan Spiegelman, Patrick A Dion, Priscille Gerardin, Claudine Laurent, David Cohen, Judith Rapoport, Guy A Rouleau
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia defined as onset before age of 13. Here we report on two unrelated cases diagnosed with both COS and alternating hemiplegia of childhood (AHC), and for whom two distinct pathogenic de novo variants were identified in the ATP1A3 gene. ATP1A3 encodes the α-subunit of a neuron-specific ATP-dependent transmembrane sodium-potassium pump. Using whole exome sequencing data derived from a cohort of 17 unrelated COS cases, we also examined ATP1A3 and all of its interactors known to be expressed in the brain to establish if variants could be identified...
June 12, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29889309/mechanisms-of-increased-hippocampal-excitability-in-the-mashl-mouse-model-of-na-k-atpase-dysfunction
#7
Arsen S Hunanyan, Ashley R Helseth, Elie Abdelnour, Bassil Kherallah, Monisha Sachdev, Leeyup Chung, Melanie Masoud, Jordan Richardson, Qiang Li, J Victor Nadler, Scott D Moore, Mohamad A Mikati
OBJECTIVE: Na+ /K+ -ATPase dysfunction, primary (mutation) or secondary (energy crisis, neurodegenerative disease) increases neuronal excitability in the brain. To evaluate the mechanisms underlying such increased excitability we studied mice carrying the D801N mutation, the most common mutation causing human disease, specifically alternating hemiplegia of childhood (AHC) including epilepsy. Because the gene is expressed in all neurons, particularly γ-aminobutyric acid (GABA)ergic interneurons, we hypothesized that the pathophysiology would involve both pyramidal cells and interneurons and that fast-spiking interneurons, which have increased firing rates, would be most vulnerable...
June 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29886639/-application-of-superselective-lingual-artery-embolization-in-treatment-of-severe-hemorrhange-in-patients-with-carcinoma-of-tongue
#8
Z P Li, J Meng, H J Wu, J Zhang, Q P Gu
To explore the clinical value of superselective lingual artery embolization in treating the severe hemorrhage in patients with advanced carcinoma of tongue. Four patients with advanced tongue cancer hemorrhage from March 2014 to February 2016 were enrolled in this study. T3N2M0 (2 cases) and T4N1M0 (2 cases) were diagnosed preoperatively. Two cases of advanced tongue carcinoma tumors had severe bleeding and the other 2 cases of hemorrhage were after radiotherapy. All cases including 3 squamous cell carcinoma and 1 adenocarcinoma were firstly demonstrated by arterigraphy under seldinger technique with digtial subtraction angiogarphy to ensure the rupture site and then all cases were followed by superselective artery embolization...
June 9, 2018: Zhonghua Kou Qiang Yi Xue za Zhi, Zhonghua Kouqiang Yixue Zazhi, Chinese Journal of Stomatology
https://www.readbyqxmd.com/read/29881582/pial-arteriovenous-fistula-of-the-spine-in-a-child-with-hemiplegia
#9
Kazuki Hatayama, Shinichiro Goto, Ayumi Nishida, Masaru Inoue
Pial arteriovenous fistula (AVF) is an extremely rare disease in children. When a child presents with sudden onset of hemiparesis and headache, it is very important to perform spinal magnetic resonance imaging (MRI) scanning for early diagnosis and treatment.
June 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29877848/feasibility-of-synergy-based-exoskeleton-robot-control-in-hemiplegia
#10
Modar Hassan, Hideki Kadone, Tomoyuki Ueno, Yasushi Hada, Yoshiyuki Sankai, Kenji Suzuki
Here, we present a study on exoskeleton robot control based on inter-limb locomotor synergies using a robot control method developed to target hemiparesis. The robot control is based on inter-limb locomotor synergies and kinesiological information from the non-paretic leg and a walking aid cane to generate motion patterns for the assisted leg. The developed synergy-based system was tested against an autonomous robot control system in five patients with hemiparesis and varying locomotor abilities. Three of the participants were able to walk using the robot...
June 2018: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/29875920/-hemorrhagic-rupture-of-a-giant-arteriovenous-malformation-in-a-young-man-in-ouagadougou
#11
Anselme Alfred Dabilgou, Julie Marie Adeline Kyelem
Vascular arteriovenous malformations (VAM) are aggressive vascular diseases associated with increased haemorrhagic risk in terms of morbidity and mortality. Vascular arteriovenous malformations are usually sporadic. The main symptom of VAM is hemorrhage, in 50% of cases. We here report the case of a 28 year old patient, hospitalized with right sided motor deficit of acute onset associated with consciousness disorder in the Department of Neurology at the Yalgado Ouédraogo University Hospital Center. The patient had a history of chronic headaches treated with self-medication and of right Bravais-Jacksonian seizures...
2018: Pan African Medical Journal
https://www.readbyqxmd.com/read/29871566/pronator-teres-selective-neurectomy-in-children-with-cerebral-palsy
#12
Marion Helin, Manon Bachy, Claire Stanchina, Frank Fitoussi
The objective of this study was to evaluate the results after selective pronator teres (PT) neurectomy in children with spastic hemiplegia. Patients with PT spasticity without contracture and an active supination improvement after PT botulinum toxin injection were included. Hand function and deformities were evaluated with the House score, Gschwind and Tonkin pronation deformity classification and Zancolli's classification. Twenty-two patients (mean age 11.6 years) were included in this study. The average follow-up was 32...
January 1, 2018: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/29861155/early-onset-encephalopathy-with-paroxysmal-movement-disorders-and-epileptic-seizures-without-hemiplegic-attacks-about-three-children-with-novel-atp1a3-mutations
#13
Pauline Marzin, Cyril Mignot, Nathalie Dorison, Louis Dufour, Dorothée Ville, Anna Kaminska, Eleni Panagiotakaki, Anne-Sophie Dienpendaele, Marie-José Penniello, Marie-Christine Nougues, Boris Keren, Christel Depienne, Caroline Nava, Mathieu Milh, Laurent Villard, Christian Richelme, Clotilde Rivier, Sandra Whalen, Delphine Heron, Gaëtan Lesca, Diane Doummar
OBJECTIVE: Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. Next generation sequencing allowed the description of other phenotypes, including early-onset epileptic encephalopathy in two patients. We report on three more patients carrying ATP1A3 mutations with a close phenotype and discuss the relationship of this phenotype to alternating hemiplegia of childhood...
May 31, 2018: Brain & Development
https://www.readbyqxmd.com/read/29860919/dexterity-and-finger-sense-a-possible-dissociation-in-children-with-cerebral-palsy
#14
Nolwenn Guedin, Joel Fluss, Catherine Thevenot
Both hand and finger sensory perception and motor abilities are essential for the development of skilled gestures and efficient bimanual coordination. While finger dexterity and finger sensory perception can be impaired in children with cerebral palsy (CP), the relationship between these two functions in this population is not clearly established. The common assumption that CP children with better sensory function also demonstrate better motor outcomes has been recently challenged. To study these questions further, we assessed both finger dexterity and finger gnosia, the ability to perceive one's own fingers by touch, in groups of 11 children with unilateral (i...
January 1, 2018: Perceptual and Motor Skills
https://www.readbyqxmd.com/read/29858110/an-episode-of-acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion-followed-by-hemiplegia-and-intractable-epilepsy-observed-in-a-patient-with-a-novel-frameshift-mutation-in-hnrnpu
#15
Shino Shimada, Hirokazu Oguni, Yui Otani, Aiko Nishikawa, Susumu Ito, Kaoru Eto, Tomoyuki Nakazawa, Keiko Yamamoto-Shimojima, Jun-Ichi Takanashi, Satoru Nagata, Toshiyuki Yamamoto
Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onset epilepsy and severe intellectual disability. A de novo frameshift mutation in HNRNPU was identified in a 5-year-old boy with developmental delay associated with Rett-like features including stereotypic hand movements and respiratory abnormalities with episode of apnea and hyperpnea followed by falling...
May 29, 2018: Brain & Development
https://www.readbyqxmd.com/read/29843413/detection-of-hemiplegic-walking-using-a-wearable-inertia-sensing-device
#16
Junseok Lee, Sooji Park, Hangsik Shin
Hemiplegia is a symptom that is caused by reduced sensory and motor ability on one side of the body due to stroke-related neural defects. Muscular weakness and abnormal sensation that is induced by hemiplegia usually lead to motor impairments, such as difficulty in controlling the trunk, unstable balance, and poor walking ability. Therefore, most hemiplegia patients show defective and asymmetric gait pattern. The purpose of this study is to distinguish hemiplegic gait by extracting simple characteristics of acceleration signals that are caused by asymmetry during walking using a wearable system...
May 28, 2018: Sensors
https://www.readbyqxmd.com/read/29808062/hemiconvulsion-hemiplegia-syndrome-in-a-young-boy-with-developmental-delay
#17
Memoona Nasir, Maham Jehangir, Rashed Nazir Ahmed, Ejaz Khan, Arsalan Ahmad
Hemiconvulsion hemiplegia epilepsy (HHE) syndrome is a rare complication of prolonged focal seizures in children upto 4 years of age. It is usually idiopathic and seen in the setting of febrile seizures in otherwise normal children but less commonly is also associated with structural, infective, traumatic and degenerative diseases that predispose to seizures. It has 3 stages, the first of prolonged focal seizures, then the development of hemiplegia and then followed by final stage of development of epilepsy after a variable latent period...
April 2018: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/29801815/modification-of-cerebellar-afferent-pathway-in-the-subacute-phase-of-stroke
#18
Youngkook Kim, Se-Hong Kim, Joon-Sung Kim, Bo Young Hong
BACKGROUND: This study aims to identify the relationship between corticopontocerebellar tract (CPCT) and corticospinal tract (CST) integrity as well as motor function after stroke. MATERIALS AND METHODS: A total of 33 patients with stroke (18 left, 15 right hemispheric lesions) who underwent diffusion tensor imaging within 2 months of stroke onset and 17 age- and sex-matched healthy controls were retrospectively enrolled. Tract volume and the asymmetry index based on tract volume (AITV ) of the CST and CPCT were used to identify structural changes in individual tracts and the correlation between those tracts...
May 22, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29801192/variants-in-the-atp1a3-gene-mutations-within-severe-apnea-starting-in-early-infancy-an-observational-study-of-two-cases-with-a-possible-relation-to-epileptic-activity
#19
Niklas Holze, Andreas van Baalen, Ulrich Stephani, Ingo Helbig, Hiltrud Muhle
Mutations in the ATP1A3 gene are known to cause alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism (RDP). Both conditions are childhood-onset neurological disorders with distinct symptoms and different times of onset. ATP1A3 has also been associated with CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss). Within the various ATP1A3 -related neurological syndromes, a specific genotype-phenotype correlation is starting to emerge...
May 25, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29783900/the-efficacy-comparison-of-citalopram-fluoxetine-and-placebo-on-motor-recovery-after-ischemic-stroke-a-double-blind-placebo-controlled-randomized-controlled-trial
#20
Marjan Asadollahi, Mahtab Ramezani, Ziba Khanmoradi, Ehsan Karimialavijeh
OBJECTIVE: The present study aimed to assess the effectiveness of oral citalopram, compared with fluoxetine and a placebo, in patients with post-stroke motor disabilities. DESIGN: A randomized double-blind placebo-controlled clinical trial was conducted between January 2015 and January 2016. SETTING: The neurology department of a university-affiliated urban hospital in Tehran, Iran. SUBJECTS: Ninety adult patients with acute ischemic stroke, hemiplegia, or hemiparesis and a Fugl-Meyer Motor Scale score of below 55 were included...
May 1, 2018: Clinical Rehabilitation
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