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https://www.readbyqxmd.com/read/28222551/the-top-100-cited-neurorehabilitation-papers
#1
Jeffrey S Kreutzer, Amma A Agyemang, David Weedon, Nathan Zasler, Melissa Oliver, Aaron A Sorensen, Saskia van Wijngaarden, Eileen Leahy
BACKGROUND: Neurorehabilitation covers a large range of disorders, treatment approaches and methods. There have been previous citation analyses of rehabilitation and of its subfields. However, there has never been a comprehensive citation analysis in neurorehabilitation. OBJECTIVE: The present study reports findings from a citation analysis of the top 100 most cited neurorehabilitation papers to describe the research trends in the field. METHODS: A de-novo keyword search of papers indexed in the Web of Science Core Collection database yielded 52,581 papers...
January 7, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28222539/technologies-assessing-limb-bradykinesia-in-parkinson-s-disease
#2
Hasan Hasan, Dilan S Athauda, Thomas Foltynie, Alastair J Noyce
BACKGROUND: The MDS-UPDRS (Movement Disorders Society - Unified Parkinson's Disease Rating Scale) is the most widely used scale for rating impairment in PD. Subscores measuring bradykinesia have low reliability that can be subject to rater variability. Novel technological tools can be used to overcome such issues. OBJECTIVE: To systematically explore and describe the available technologies for measuring limb bradykinesia in PD that were published between 2006 and 2016...
2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28220573/a-comparison-of-two-types-of-ankle-supports-in-men-with-haemophilia-and-unilateral-ankle-pain-from-arthropathy
#3
D Oleson, L Fox, T Nguyen, P Sochacki, M McCarthy, E Adams, M Recht
INTRODUCTION: Adults with haemophilia frequently have a painful and disordered gait due to ankle arthropathy. AIM: The aim of this study was to determine if pain and gait parameters were affected by the use of different types of ankle bracing. METHODS: We investigated the gait patterns of 17 men with severe haemophilia without bracing, using a fracture boot (FB) and a carbon fibre floor reaction ankle foot orthosis (CF-AFO). Pain relief was determined in each condition...
February 20, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#4
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28220259/mutations-in-kiaa0753-cause-joubert-syndrome-associated-with-growth-hormone-deficiency
#5
Joshi Stephen, Thierry Vilboux, Luhe Mian, Chulaluck Kuptanon, Courtney M Sinclair, Deniz Yildirimli, Dawn M Maynard, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C Mullikin, Marjan Huizing, William A Gahl, May Christine V Malicdan, Meral Gunay-Aygun
Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic "molar tooth sign" on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency...
February 20, 2017: Human Genetics
https://www.readbyqxmd.com/read/28220082/synaptic-and-neuronal-autoantibody-associated-psychiatric-syndromes-controversies-and-hypotheses
#6
Adam Al-Diwani, Thomas A Pollak, Alexander E Langford, Belinda R Lennox
Autoimmune encephalitis (AE) mediated by antibodies against synaptic and neuronal surface targets frequently presents with a psychiatric syndrome. In these patients, removal of autoantibodies treats the disease and outcomes are closely linked to early intervention. The discovery of these autoantibodies in isolated psychiatric syndromes has raised the possibility that these patients may derive similar benefits from immunotherapy, a potentially transformational approach to the treatment of mental illness. Although open-label case series suggest impressive therapeutic outcomes, the pathological relevance of these autoantibodies outside of canonical presentations is debated...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28220064/effect-of-experimentally-induced-trunk-muscular-tensions-on-the-sit-to-stand-task-performance-and-associated-postural-adjustments
#7
Alain Hamaoui, Caroline Alamini-Rodrigues
It has been shown that increased muscular activity along the trunk is likely to impair body balance, but there is little knowledge about its consequences on more dynamic tasks. The purpose of this study was to determine the effect of unilateral and bilateral increases of muscular tension along the trunk on the sit-to-stand task (STS) performance and associated anticipatory postural adjustments (APAs). Twelve healthy females (23 ± 3 years, 163 ± 0.06 cm, 56 ± 9 kg), free of any neurological or musculoskeletal disorders, performed six trials of the STS at maximum speed, in seven experimental conditions varying the muscular tension along each side of the trunk, using a specific bimanual compressive load paradigm...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28219280/disability-diversity-and-autism-philosophical-perspectives-on-health
#8
Lidia Ripamonti
This paper aims to explore the connection between health and developmental disorders, particularly in regard to the notion of 'neurodiversity', which considers high-functioning autism not as a lifelong disability but a neurological form within a diversity of human minds. In recent years, autistic activist movements have called for a more positive, humanizing, identity-first language when describing this condition, rejecting negative language such as 'disorder', 'deficit', and 'impairment', and instead describing autism as a way of being, part of one's personal identity, which does not always need to be cured...
April 2016: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/28218824/decreased-home-cage-movement-and-oromotor-impairments-in-adult-fmr1-ko-mice
#9
Stephen J Bonasera, Tammy R Chaudoin, Evan H Goulding, Mateusz Mittek, Anna Dunaevsky
Fragile X syndrome (FXS) is a common inherited disorder that significantly impacts family and patient day-to-day living across the entire lifespan. The childhood and adolescent behavioral consequences of FXS are well-appreciated. However, there are significantly fewer studies (except those examining psychiatric comorbidities) assessing behavioral phenotypes seen in adults with FXS. Mice engineered with a genetic lesion of Fmr1 recapitulate important molecular and neuroanatomical characteristics of FXS, and provide a means to evaluate adult behavioral phenotypes associated with FXS...
February 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28218460/oculogyric-crises-a-review-of-phenomenology-etiology-pathogenesis-and-treatment
#10
REVIEW
Elizabeth J Slow, Anthony E Lang
Oculogyric crises are a rare movement disorder characterized by paroxysmal, conjugate, tonic, usually upwards, deviation of the eyes. Causes for oculogyric crises are limited and include complications of dopamine-receptor blocking medications and neurometabolic disorders affecting dopamine metabolism, suggesting that an underlying hypodopaminergic state is important to the pathogenesis. Mimickers of oculogyric crises exist, and we propose diagnostic criteria to distinguish true oculogyric crises. Recognition of oculogyric crises is important for the diagnosis and appropriate treatment of rare disorders, and an approach to investigations in oculogyric crises is proposed...
February 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28218416/physiology-of-midbrain-head-movement-neurons-in-cervical-dystonia
#11
Alexey Sedov, Valentin Popov, Vladimir Shabalov, Svetlana Raeva, H A Jinnah, Aasef G Shaikh
BACKGROUND: Early theories for cervical dystonia, as promoted by Hassler, emphasized the role of the midbrain interstitial nucleus of Cajal. Focus then shifted to the basal ganglia, and it was further supported with the success of deep brain stimulation. Contemporary theories suggested the role of the cerebellum, but even more recent hypotheses renewed interest in the midbrain. Although the pretectum was visited on several occasions, we still do not know about the physiology of midbrain neurons in cervical dystonia...
February 20, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28218413/minimal-clinically-important-differences-for-the-experiences-of-daily-living-parts-of-movement-disorder-society-sponsored-unified-parkinson-s-disease-rating-scale
#12
Krisztina Horváth, Zsuzsanna Aschermann, Márton Kovács, Attila Makkos, Márk Harmat, József Janszky, Sámuel Komoly, Kázmér Karádi, Norbert Kovács
BACKGROUND: The minimal clinically important difference is the smallest change of scores clinically meaningful to patients. OBJECTIVES: We aimed to calculate these threshold values in association with the International Parkinson and Movement Disorder Society UPDRS (MDS-UPDRS) Parts I and II and to evaluate the feasibility of the composite score of Part I and II (MDS-UPDRS I+II) as an outcome. METHODS: Nine hundred eighty-five paired investigations of 365 patients were reviewed, implementing three different techniques simultaneously...
February 20, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#13
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28217617/temporomandibular-joint-ankylosis-in-ankylosing-spondylitis-a-case-report-and-review-of-literature
#14
Nishtha Gupta, Nikhil Gupta, Laxmikant Ramkumarsingh Tomar, Nikhil Nair
Ankylosing spondylitis (AS) is a chronic systemic inflammatory disorder. It primarily affects the axial skeleton through involvement of the peripheral joint scan occurs. Temporomandibular joint (TMJ) involvement in AS varies from 4% to 35%. Here, we present a case of a 35-year-old male, follow-up of AS from last 8 years on nonsteroidal anti-inflammatory drugs, presented with fresh complaints of painfully restricted movements of jaw during swallowing. Computer tomography of patient demonstrates articular cartilage changes with disc and joint abnormalities...
July 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28217166/multifocal-myoclonus-as-a-heralding-manifestation-of-wilson-disease
#15
Rajesh Verma, Vikram V Holla, Suchit Pandey, Imran Rizvi
Wilson disease (WD) is one of the few curable movement disorders that manifests with varied presentations so that WD needs to be considered in any patient with a movement disorder under the age of 50 years. Although WD is one of the causes of myoclonus, it is rarely seen in WD and usually as an associated finding. We report a case of an adolescent female patient of WD who presented with cortical multifocal myoclonus of 6-month duration with later development of generalized dystonia, extrapyramidal syndrome, and cognitive decline...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28217150/infantile-tremor-syndrome-a-review-and-critical-appraisal-of-its-etiology
#16
REVIEW
Jatinder Singh Goraya, Sukhjot Kaur
Infantile tremor syndrome (ITS) is defined by the tetrad of pallor, developmental delay/regression, skin pigmentation, and brown scanty scalp hair. Involuntary movements in the form of tremors supervene in the natural course of the illness in a significant number of cases. The disorder occurs in exclusively breast-fed infants of vegetarian mothers belonging to economically deprived sections of society. Most of the children eventually recover but are frequently left with long-term cognitive and language neurodeficits...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28216853/disclusion-time-reduction-therapy-in-treating-occluso-muscular-pains
#17
Prafulla Thumati, Robert B Kerstein, Roshan P Thumati
Disclusion time reduction (DTR) is an objective treatment protocol using T-Scan III (digital analysis of occlusion) and electromyography for treating occlusally activated orofacial pains. Chronic occluso-muscle disorder is a myogenous subset of temporomandibular disorder symptoms. These muscular symptoms are induced within hyperactive masticatory muscles due to prolonged disclusion time, occlusal interferences, and occlusal surface friction that occur during mandibular excursive movements. This case report describes a patient treated by DTR therapy, whereby measured pretreatment prolonged disclusion time was reduced to short disclusion time using the immediate complete anterior guidance development enameloplasty, guided by T-Scan occlusal contact time and force analysis synchronized with electromyographic recordings of four masticatory muscles...
January 2017: Journal of Indian Prosthodontic Society
https://www.readbyqxmd.com/read/28216058/sca13-causes-dominantly-inherited-non-progressive-myoclonus-ataxia
#18
Solveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, Claire Ewenczyk, Mathilde Renaud, Claire Guissart, Jean Muller, André Pierre Legrand, Alexandra Durr, Vincent Laugel, Michel Koenig, Christine Tranchant, Mathieu Anheim
INTRODUCTION: Spinocerebellar ataxia 13 (SCA13) is a rare autosomal dominant cerebellar ataxia. To our knowledge, its association to movement disorders has never been described. We aimed at reporting 8 new SCA13 cases with a focus on movement disorders especially myoclonus. METHODS: We performed a detailed neurological examination and neurophysiological recording in 8 patients consecutively diagnosed with SCA13 between December 2013 and October 2015 and followed up in two French tertiary centers...
February 11, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28215268/periodic-limb-movements-and-restless-legs-syndrome-in-children-with-a-history-of-prematurity
#19
Christopher M Cielo, Lourdes M DelRosso, Ignacio E Tapia, Sarah N Biggs, Gillian M Nixon, Lisa J Meltzer, Joel Traylor, Ji Young Kim, Carole L Marcus
INTRODUCTION: Little is known about the pediatric population at an increased risk of restless legs syndrome (RLS) and periodic limb movement disorder (PLMD). Polysomnographic data from the Caffeine for Apnea of Prematurity-Sleep (CAPS) study showed a high prevalence of elevated periodic limb movement index (PLMI) in a cohort of ex-preterm children, but the clinical importance of this finding, such as association with RLS, is unknown. We hypothesized that ex-preterm children would have a high prevalence of RLS and PLMD...
February 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28215267/a-community-based-study-of-risk-factors-for-probable-rapid-eye-movement-sleep-behavior-disorder
#20
Jian-Fang Ma, Yuan Qiao, Xiang Gao, Liang Liang, Xiao-Li Liu, Dun-Hui Li, Hui-Dong Tang, Sheng-Di Chen
OBJECTIVES: To cross-sectionally explore the potential risk factors for rapid eye movement (REM) sleep behavior disorder (RBD) in a community cohort in Shanghai. METHODS: Based on the validated RBD screening questionnaire (RBDSQ), we identified individuals with probable RBD (pRBD) in 3635 community-dwelling residents (≥50 years old) from an urban community of Shanghai. Potential risk factors of pRBD, including age, sex, smoking, socioeconomic status, obesity, consumption of tea (surrogate for caffeine intake) and alcohol, medications and chronic disease status, were assessed via questionnaire...
February 2017: Sleep Medicine
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