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https://www.readbyqxmd.com/read/29786676/-the-modern-approaches-to-the-restoration-of-postural-balance-in-the-patients-suffering-from-the-consequences-of-an-acute-cerebrovascular-accident-cva
#1
S A Volovets, E Y Sergeenko, L Y Darinskaya, B A Polyaev, Y A Yashinina, M A Isaeva, I V Zhitareva, A N Lobov, T I Panova
BACKGROUND: the most frequent and severe consequences of an acute cerebrovascular accident (CVA) are locomotor and coordination disorders which significantly increase the risk of falling in a static position and when walking. The methods used for the rehabilitation of the affected patients are designed in the first place to enable the patients to acquire the skills necessary for maintaining the static balance. The modern equipment allows to carry out coordination training in the static position and also during walking...
May 21, 2018: Voprosy Kurortologii, Fizioterapii, i Lechebnoĭ Fizicheskoĭ Kultury
https://www.readbyqxmd.com/read/29783067/motor-retraining-more-for-functional-movement-disorders-outcomes-from-a-one-week-multidisciplinary-rehabilitation-program
#2
Alexandra Jacob, Darryl Kaelin, Abbey Roach, Craig Ziegler, Kathrin LaFaver
BACKGROUND: Functional Movement Disorders (FMD) are conditions of abnormal motor control thought to be caused by psychological factors. These disorders are commonly seen in neurological practice and prognosis is often poor. No consensus treatment guidelines have been established, however the role of physical therapy in addition to psychotherapy has increasingly been recognized. This study reports patient outcomes from a multidisciplinary FMD treatment program using motor retraining (MoRe) strategies...
May 18, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29780118/a-10-year-follow-up-study-of-a-japanese-family-with-ferroportin-disease-a-mild-iron-overload-with-mild-hyperferritinemia-co-occurring-with-hyperhepcidinemia-may-be-benign
#3
Hisao Hayashi, Motoyoshi Yano, Naohito Urawa, Akane Mizutani, Shima Hamaoka, Jun Araki, Yuji Kojima, Yutaka Naito, Ayako Kato, Yasuaki Tatsumi, Koichi Kato
This is a 10-year follow-up study of a family with ferroportin disease A. The proband, a 59-year-old man showed no noteworthy findings with the exception of an abnormal iron level. The proband's 90-year-old father showed reduced abilities in gait and cognition; however, with the exception of his iron level, his biochemistry results were almost normal. Brain imaging showed age-matched atrophy and iron deposition. In both patients, the serum levels of ferritin and hepcidin25, and liver CT scores declined over a 10-year period...
May 18, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29779902/molecular-genetics-and-metabolism-special-edition-diagnosis-diagnosis-and-prognosis-of-mucopolysaccharidosis-iva
#4
REVIEW
Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored primarily in the cartilage and its extracellular matrix (ECM), leading to a direct impact on bone development and successive systemic skeletal spondylepiphyseal dysplasia...
May 15, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29777722/ca-2-signaling-and-spinocerebellar-ataxia
#5
REVIEW
Chihiro Hisatsune, Kozo Hamada, Katsuhiko Mikoshiba
Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily characterized by gait ataxia, and additional clinical features include nystagmus, dysarthria, tremors and cerebellar atrophy. Forty-four hereditary SCAs have been identified to date, along with >35 SCA-associated genes. Despite the great diversity and distinct functionalities of the SCA-related genes, accumulating evidence supports the occurrence of a common pathophysiological event among several hereditary SCAs...
May 16, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29771624/virtual-reality-training-to-enhance-behavior-and-cognitive-function-among-children-with-attention-deficit-hyperactivity-disorder-brief-report
#6
Shirley Shema-Shiratzky, Marina Brozgol, Pablo Cornejo-Thumm, Karen Geva-Dayan, Michael Rotstein, Yael Leitner, Jeffrey M Hausdorff, Anat Mirelman
PURPOSE: To examine the feasibility and efficacy of a combined motor-cognitive training using virtual reality to enhance behavior, cognitive function and dual-tasking in children with Attention-Deficit/Hyperactivity Disorder (ADHD). METHODS: Fourteen non-medicated school-aged children with ADHD, received 18 training sessions during 6 weeks. Training included walking on a treadmill while negotiating virtual obstacles. Behavioral symptoms, cognition and gait were tested before and after the training and at 6-weeks follow-up...
May 17, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#7
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29765892/botulinum-toxin-a-injection-in-the-treatment-of-spasticity-in-a-infantile-onset-neurodegeneration-with-brain-iron-accumulation-a-case-report
#8
Hwan Kwon Do, Geun Yeol Jo, Jun Koo Kwon, Woo Jin Kim
Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder characterized by iron accumulation in the globus pallidus (GP) of the brain (neurodegeneration with brain iron accumulation [NBIA]), which is characterized by dystonia and spasticity resulting in postural difficulties. A 33-month-old boy was admitted with a pronounced gait disturbance. Marked hypertonicity in the patient's both calf muscles was noted, resulting in waddling with repeated slip-falls. NBIA was suspected by high T2 intensity in the GP on brain MRI, then it was confirmed by detecting PANK2 mutation...
April 2018: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29763676/effect-of-single-session-dual-tdcs-before-physical-therapy-on-lower-limb-performance-in-sub-acute-stroke-patients-a-randomized-sham-controlled-crossover-study
#9
Wanalee Klomjai, Benchaporn Aneksan, Anuchai Pheungphrarattanatrai, Thanwarat Chantanachai, Nattha Choowong, Soontaree Bunleukhet, Paradee Auervitchayapat, Yongchai Nilanon, Vimonwan Hiengkaew
Anodal stimulation increases cortical excitably, whereas cathodal stimulation decreases cortical excitability. Dual transcranial direct current stimulation (tDCS; anodal over the lesioned hemisphere, cathodal over the non-lesioned hemisphere) was found to enhance motor learning. The corresponding tDCS-induced changes were reported to reduce the inhibition exerted by the unaffected hemisphere on the affected hemisphere and restore the normal balance of the interhemispheric inhibition. Most studies were devoted to the possible modification of upper-limb motor function after tDCS; however, almost no study has demonstrated its effects on lower-limb function and gait, which are also commonly disordered in stroke patients with motor deficits...
May 12, 2018: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29763636/inhibition-of-cox-2-mpges-1-and-5-lox-in-macrophages-by-leonurine-ameliorates-monosodium-urate-crystal-induced-inflammation
#10
Yanzhuo Liu, Chenfan Duan, Honglei Chen, Chenlong Wang, Xiaoxiao Liu, Miao Qiu, Honglin Tang, Feng Zhang, Xiaoyang Zhou, Jing Yang
Cyclooxygenase-2 (COX-2), 5-lipoxygenase (5-LOX) and microsomal prostaglandin E synthase-1 (mPGES-1)-derived eicosanoids play an essential role in human inflammatory disorders. Here, we investigated whether inhibition of COX-2/mPGES-1 and 5-LOX in macrophages by leonurine ameliorates monosodium urate (MSU) crystal-induced inflammation. Virtual screening assay and in vitro enzyme inhibition assay showed that leonurine was a potential inhibitor of COX-2, mPGES-1 and 5-LOX. Compared with COX-2 inhibitor celecoxib, leonurine (30 mg/kg) significantly decreased ankle perimeter, gait score and neutrophil number in synovial fluid in MSU crystal-treated rats, accompanied with the decreased expression of COX-2, mPGES-1 and 5-LOX and production of prostaglandin E2 (PGE2 ) and leukotriene B4 (LTB4 ) in the synovial fluid macrophages...
May 15, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29758948/argyrophilic-grain-pathology-in-frontotemporal-lobar-degeneration-demographic-clinical-neuropathological-and-genetic-features
#11
María José Gil, María Sagrario Manzano, María Luz Cuadrado, Cristina Fernández, Elena Góméz, Carmen Matesanz, Miguel Calero, Alberto Rábano
Frontotemporal lobar degeneration (FTLD) is a clinically, pathologically, and genetically heterogeneous group of disorders that affect the frontal and temporal lobes of the brain. FTLD classification distinguishes three main neuropathological groups: FTLD-tau, FTLD-TDP, and FTLD-FUS. As a four-repeat tauopathy, argyrophilic grain disease (AGD) is included in the FTLD-tau group. AGD may also appear in association with other neuropathological disorders. We describe the demographic, clinical, neuropathological, and genetic characteristics of a series of FTLD cases presenting with AGD...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29756234/inhaling-xenon-ameliorates-l-dopa-induced-dyskinesia-in-experimental-parkinsonism
#12
Jérôme Baufreton, Tomislav Milekovic, Qin Li, Steve McGuire, Eduardo Martin Moraud, Grégory Porras, Shiqi Sun, Wai Kin D Ko, Marine Chazalon, Stéphanie Morin, Elisabeth Normand, Géraldine Farjot, Aude Milet, Jan Pype, Elsa Pioli, Gregoire Courtine, Baptiste Bessière, Erwan Bezard
Parkinson's disease motor symptoms are treated with levodopa, but long-term treatment leads to disabling dyskinesia. Altered synaptic transmission and maladaptive plasticity of corticostriatal glutamatergic projections play a critical role in the pathophysiology of dyskinesia. Because the noble gas xenon inhibits excitatory glutamatergic signaling, primarily through allosteric antagonism of the N-methyl-d-aspartate receptors, we aimed to test its putative antidyskinetic capabilities. We first studied the direct effect of xenon gas exposure on corticostriatal plasticity in a murine model of levodopa-induced dyskinesia We then studied the impact of xenon inhalation on behavioral dyskinetic manifestations in the gold-standard rat and primate models of PD and levodopa-induced dyskinesia...
May 14, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29753346/clinical-outcome-assessments-use-of-normative-data-in-a-pediatric-rare-disease
#13
Dawn Phillips, Beth Leiro
Pediatric rare diseases present unique challenges in clinical trial design and in selection of clinical outcome assessments (COAs) used to support claims in medical product labeling. COAs that discriminate level of function relative to a normative sample are particularly important in the pediatric rare disease setting because the literature is often void of natural history data. Pediatric rare disease clinical trials will often include a wide age distribution. Gross and fine motor skills, communication, cognition, and independence in activities of daily living vary by age, and it may be difficult to distinguish between treatment effect and change due to developmental maturation...
May 2018: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/29738486/shoe-insole-technology-for-injury-prevention-in-walking
#14
REVIEW
Hanatsu Nagano, Rezaul K Begg
Impaired walking increases injury risk during locomotion, including falls-related acute injuries and overuse damage to lower limb joints. Gait impairments seriously restrict voluntary, habitual engagement in injury prevention activities, such as recreational walking and exercise. There is, therefore, an urgent need for technology-based interventions for gait disorders that are cost effective, willingly taken-up, and provide immediate positive effects on walking. Gait control using shoe-insoles has potential as an effective population-based intervention, and new sensor technologies will enhance the effectiveness of these devices...
May 8, 2018: Sensors
https://www.readbyqxmd.com/read/29734949/a-case-of-hyperparathyroidism-associated-parkinsonism-successfully-treated-with-cinacalcet-hydrochloride-a-calcimimetic
#15
Yuichiro Ohya, Masato Osaki, Shota Sakai, Shunsuke Kimura, Chiharu Yasuda, Tetsuro Ago, Takanari Kitazono, Shuji Arakawa
BACKGROUND: Some metabolic disorders, including abnormal calcium metabolism, can develop and worsen parkinsonism. However, whether hyperparathyroidism can cause parkinsonism remains controversial. CASE PRESENTATION: An 83-year-old woman with a history of right thalamic hemorrhage and drug-induced parkinsonism, was admitted due to worsening of parkinsonian symptoms including mask-like face, bradykinesia, freezing of gait, and rigidity. She had been diagnosed with autoimmune hepatitis and was being treated with prednisolone...
May 7, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29733529/sensor-based-gait-analysis-in-atypical-parkinsonian-disorders
#16
Cecilia Raccagni, Heiko Gaßner, Sabine Eschlboeck, Sylvia Boesch, Florian Krismer, Klaus Seppi, Werner Poewe, Bjoern M Eskofier, Juergen Winkler, Gregor Wenning, Jochen Klucken
BACKGROUND AND OBJECTIVES: Gait impairment and reduced mobility are typical features of idiopathic Parkinson's disease (iPD) and atypical parkinsonian disorders (APD). Quantitative gait assessment may have value in the diagnostic workup of parkinsonian patients and as endpoint in clinical trials. The study aimed to identify quantitative gait parameter differences in iPD and APD patients using sensor-based gait analysis and to correlate gait parameters with clinical rating scales. SUBJECTS AND METHODS: Patients with iPD and APD including Parkinson variant multiple system atrophy and progressive supranuclear palsy matched for age, gender, and Hoehn and Yahr (≤3) were recruited at two Movement Disorder Units and assessed using standardized clinical rating scales (MDS-UPDRS-3, UMSARS, PSP-RS)...
May 7, 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29728303/establishment-of-reference-scores-and-interquartile-ranges-for-the-japanese-orthopaedic-association-back-pain-evaluation-questionnaire-joabpeq-in-patients-with-low-back-pain
#17
Ryoji Tominaga, Miho Sekiguchi, Koji Yonemoto, Tatsuyuki Kakuma, Shin-Ichi Konno
BACKGROUND: The Japanese Orthopaedic Association Back Pain Evaluation Questionnaire (JOABPEQ) was developed in 2007, including the five domains of Pain-related disorder, Lumbar spine dysfunction, Gait disturbance, Social life disturbance, and Psychological disorder. It is used by physicians to evaluate treatment efficacy by comparing scores before and after treatment. However, the JOABPEQ does not allow evaluation of the severity of a patient's condition compared to the general population at a single time point...
May 1, 2018: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/29721488/don-t-judge-a-book-by-its-cover-factitious-disorder-imposed-on-children-report-on-2-cases
#18
Noemi Faedda, Valentina Baglioni, Giulia Natalucci, Ignazio Ardizzone, Mauro Camuffo, Rita Cerutti, Vincenzo Guidetti
Factitious Disorder Imposed on Another (FDIA), also known as Munchausen Syndrome by Proxy (MSbP) is a very serious form of child abuse. The perpetrator, usually the mother, invents symptoms or causes real ones in order to make her child appear sick. Usually this is due to a maladaptive disorder or to an excessive of attention-seeking on her part. We report here two new cases of FDIA. The first one is a 9-year-old boy with a history of convulsive episodes, reduced verbal production, mild psychomotor disorder and urological problems who underwent several invasive procedures and hospitalizations before a diagnosis of FDIA was made...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29720801/spinocerebellar-ataxia-21-in-a-turkish-child
#19
Faruk Incecik, Ozlem M Herguner, Patrick Willems, Neslihan O Mungan
Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we reported a case presented with gait and balance problems, swallowing difficulties, mild delayed motor development, and mild learning disability with SCAR21 that confirmed by mutation analysis in a Turkish child. To the best of our knowledge, this is the first case of SCAR21 from Turkey...
January 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29703169/case-series-of-creutzfeldt-jakob-disease-in-a-third-level-hospital-in-quito
#20
Germaine Eleanor Torres Herrán, Andrés Damián Ortega Herrera, Braulio Martinez Burbano, Marcos Serrano-Dueñas, María Angélica Ortiz Yepez, Raúl Alberto Barrera Madera, Luis Alfredo Masabanda Campaña, Guillermo David Baño Jiménez, Denny Maritza Santos Saltos, Edgar Patricio Correa Díaz
BACKGROUND: Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder that affects mammals and humans. The prevalence of this disease in the United States is 0.5 to 1 per million inhabitants. So far in Ecuador, we do not know what the prevalence or incidence is, and only one case report has been written. CASE PRESENTATION: We present a case series of Creutzfeldt-Jakob disease in a third-level hospital in Quito. The average age of symptom onset in our patients was 58...
April 27, 2018: BMC Neurology
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