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https://www.readbyqxmd.com/read/29351397/acute-small-intestinal-inflammation-results-in-persistent-lymphatic-alterations
#1
Sonia Rehal, Matthew Stephens, Simon Roizes, Shan Liao, Pierre-Yves von der Weid
Inflammatory bowel disease (IBD) has a complex pathophysiology with limited treatments. Structural and functional changes in the intestinal lymphatic system have been associated with the disease, with increased risk of IBD occurrence linked to a history of acute intestinal injury. To examine the potential role of the lymphatic system in inflammation recurrence, we evaluated morphological and functional changes in mouse mucosal and mesenteric lymphatic vessels, and within the mesenteric lymph nodes during acute ileitis caused by a 7-day treatment with dextran sodium sulfate (DSS)...
December 14, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/29346549/transcriptome-and-functional-analysis-in-a-drosophila-model-of-ngly1-deficiency-provides-insight-into-therapeutic-approaches
#2
Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow
Autosomal recessive loss-of-function mutations in N-Glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction, and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD) pathway. ERAD clears misfolded proteins from the ER lumen. However, it is unclear how loss of NGLY1 function impacts ERAD and other cellular processes and results in the constellation of problems associated with NGLY1 deficiency...
January 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29341130/mitochondrial-function-and-autophagy-integrating-proteotoxic-redox-and-metabolic-stress-in-parkinson-s-disease
#3
REVIEW
Jianhua Zhang, M Lillian Culp, Jason G Craver, Victor Darley-Usmar
Parkinson's disease (PD) is a movement disorder with widespread neurodegeneration in the brain. Significant oxidative, reductive, metabolic, and proteotoxic alterations have been observed in PD postmortem brains. The alterations of mitochondrial function resulting in decreased bioenergetic health is important and needs to be further examined to help develop biomarkers for PD severity and prognosis. It is now becoming clear that multiple hits on metabolic and signaling pathways are likely to exacerbate PD pathogenesis...
January 17, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29339580/advantages-of-soft-subdural-implants-for-the-delivery-of-electrochemical-neuromodulation-therapies-to-the-spinal-cord
#4
Marco Capogrosso, Jérôme Gandar, Nathan Greiner, Eduardo Martin Moraud, Nikolaus Wenger, Polina Shkorbatova, Pavel E Мusienko, Ivan Minev, Stephanie P Lacour, Gregoire Courtine
We recently developed soft neural interfaces enabling the delivery of electrical and chemical stimulation to the spinal cord. These stimulations restored locomotion in animal models of paralysis. Soft interfaces can be placed either below or above the dura mater. Theoretically, the subdural location combines many advantages, including increased selectivity of electrical stimulation, lower stimulation thresholds, and targeted chemical stimulation through local drug delivery. However, these advantages have not been documented, nor have their functional impact been studied in-silico or in a relevant animal model of neurological disorders using a multimodal neural interface...
January 17, 2018: Journal of Neural Engineering
https://www.readbyqxmd.com/read/29335882/clinical-response-to-vim-s-thalamic-stereotactic-radiosurgery-for-essential-tremor-is-associated-with-distinctive-functional-connectivity-patterns
#5
Constantin Tuleasca, Elena Najdenovska, Jean Régis, Tatiana Witjas, Nadine Girard, Jérôme Champoudry, Mohamed Faouzi, Jean-Philippe Thiran, Meritxell Bach Cuadra, Marc Levivier, Dimitri Van De Ville
INTRODUCTION: Essential tremor (ET) is the most common movement disorder. Drug-resistant ET can benefit from standard surgical stereotactic procedures (deep brain stimulation, thalamotomy) or minimally invasive high-intensity focused ultrasound (HIFU) or stereotactic radiosurgical thalamotomy (SRS-T). Resting-state fMRI (rs-fMRI) is a non-invasive imaging method acquired in absence of a task. We examined whether rs-fMRI correlates with tremor score on the treated hand (TSTH) improvement 1 year after SRS-T...
January 15, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29332107/the-sleep-architecture-of-saudi-arabian-patients-with-kleine-levin-syndrome
#6
Saad M Al Shareef, Aljohara S Almeneessier, Omeima Hammad, Richard M Smith, Ahmed S BaHammam
To establish baseline sleep architecture during an acute attack of Kleine-Levin syndrome (KLS) in a cohort of Saudi Arabian KLS patients and compare these characteristics with other published cohorts. Methods: This was a retrospective cohort study of the polysomnographic characteristics of 10 typical symptomatic Saudi Arabian KLS patients attending the University Sleep Disorders Center, King Saud University, Riyadh, Saudi Arabia between 2002 and 2015. Data were captured by nocturnal polysomnography during an acute attack of hypersomnia and compared with other published cohorts identified via a systematic literature search...
January 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29332070/pathophysiologic-basis-of-movement-disorders
#7
Thomas Wichmann
Movement disorders are common and functionally disabling neurologic diseases. Studies over the last decades have investigated the pathophysiology of these diseases in considerable detail, leading to significant insights into their generation of motor disability. While genetically and clinically heterogeneous, most of them are accompanied by prominent and characteristic changes in firing rates and patterns in the basal ganglia, thalamus, and cortex. In recent years, researchers have placed increasing emphasis on the importance of oscillatory changes in firing in these structures, and have discovered that brain areas that were previously considered to be remote from the basal ganglia (such as the cerebellum and the pedunculopontine nucleus) are also highly significant in these disorders...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332069/the-history-of-movement-disorder-brain-surgery
#8
L Dade Lunsford, Ajay Niranjan
The first surgical procedures for abnormal movement disorders began in the 1930s, when surgeons first proposed ablative techniques of the caudate nucleus or transection of motor (pyramidal) pathways to reduce involuntary movements in patients with Parkinson's related tremor. During the 50-year interval between 1945 and 1995, the development of precise intracranial guiding devices, brain maps, and advanced imaging led to the refinement of appropriate deep brain targets affecting extrapyramidal pathways. Lesional surgery and subsequent neuroaugmentation using deep brain stimulation extended the role of deep brain surgery for a wider group of patients with tremor, rigidity, dyskinesia, and other involuntary movement disorders...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29330612/analysis-of-the-stomatognathic-system-of-children-according-orthodontic-treatment-needs
#9
Simone Cecílio Hallak Regalo, Bárbara de Lima Lucas, Kranya Victoria Díaz-Serrano, Nicolly Parente Ribeiro Frota, Isabela Hallak Regalo, Mariângela Salles Pereira Nassar, Mariah Acioli Righetti, Lígia Franco Oliveira, Lígia Maria Napolitano Gonçalves, Selma Siéssere, Marcelo Palinkas
PURPOSE: The present study evaluated electromyographic activity (EMG), masticatory performance, and tongue strength in children without and with orthodontic treatment needs. PATIENTS AND METHODS: A total of 90 children were screened and divided into the following groups: Group I (no treatment needed; mean age: 8.00 ± 0.43 years; n = 26), Group II (few malocclusions, treatment needed; mean age: 8.89 ± 0.43 years; n = 28), and Group III (slight-to-borderline treatment needed; mean age: 8...
January 12, 2018: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/29330487/a-biomarker-characterizing-neurodevelopment-with-applications-in-autism
#10
Di Wu, Jorge V José, John I Nurnberger, Elizabeth B Torres
Despite great advances in neuroscience and genetic studies, our understanding of neurodevelopmental disorders is still quite limited. An important reason is not having objective psychiatric clinical tests. Here we propose a quantitative neurodevelopment assessment by studying natural movement outputs. Movement is central to behaviors: It involves complex coordination, temporal alterations, and precise dynamic controls. We carefully analyzed the continuous movement output data, collected with high definition electromagnetic sensors at millisecond time scales...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29327097/-clinical-and-cognitive-aspects-of-functional-psychogenic-tremor
#11
REVIEW
K E Zeuner, R Schmidt, P Schwingenschuh
Functional (psychogenic) tremor is the most common functional movement disorder. Characteristic clinical features, so called red flags, can help to make the clinical distinction of this type from other tremor disorders. The most common features include the variability of frequency and amplitude. Clinical examination should include different types of distraction including motor or cognitive tasks or testing the influence of suggestibility on tremor amplitude, frequency or direction. Patients often report sudden onset and remissions that may last for months or even years...
January 11, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29325902/which-data-should-be-tracked-in-forward-dynamic-optimisation-to-best-predict-muscle-forces-in-a-pathological-co-contraction-case
#12
Colombe Bélaise, Benjamin Michaud, Fabien Dal Maso, Katja Mombaur, Mickaël Begon
The choice of the cost-function for predicting muscle forces during a movement remains a challenge, especially in patients with neuromuscular disorders. Forward dynamics-based optimisations mainly track joint kinematics or torques, combined with a least-excitation criterion. Tracking marker trajectories and/or electromyography (EMG) has rarely been proposed. Our objective was to determine the best tracking objective-function to accurately predict the upper-limb muscle forces. A musculoskeletal model was created and EMG was simulated to obtain a reference movement - a shoulder abduction...
January 4, 2018: Journal of Biomechanics
https://www.readbyqxmd.com/read/29325620/primary-familial-brain-calcifications
#13
Beatriz Quintáns, Joao Oliveira, María-Jesús Sobrido
Primary familial brain calcification (PFBC) is a neurodegenerative disease with characteristic calcium deposits in the basal ganglia and other brain regions. The disease usually presents as a combination of abnormal movements, cognitive and psychiatric manifestations, clinically indistinguishable from other adult-onset neurodegenerative disorders. The differential diagnosis must be established with genetic and nongenetic disorders that can also lead to calcium deposits in encephalic structures. In the past years PFBC causal mutations have been discovered in genes related to calcium phosphate homeostasis (SLC20A2, XPR1) and in genes involved with endothelial function and integrity (PDGFB, PDGFRB)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29323426/vision-in-children-with-autism-spectrum-disorder-a-critical-review
#14
REVIEW
Julie-Anne Little
Autism spectrum disorder (ASD) is a common neurodevelopmental condition with approximately 1-2 per cent prevalence in the population. The condition has lifelong effects for the individual and family, and early intervention and management helps maximise quality of life and outcomes. Many studies of vision in ASD have attempted to link the behavioural and sensory deficits in ASD with underlying visual processing. From this work, it is clear that individuals with ASD 'see' and process the world differently, but there remain gaps in our understanding...
January 11, 2018: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/29323043/neural-computational-modeling-reveals-a-major-role-of-corticospinal-gating-of-central-oscillations-in-the-generation-of-essential-tremor
#15
Hong-En Qu, Chuanxin M Niu, Si Li, Man-Zhao Hao, Zi-Xiang Hu, Qing Xie, Ning Lan
Essential tremor, also referred to as familial tremor, is an autosomal dominant genetic disease and the most common movement disorder. It typically involves a postural and motor tremor of the hands, head or other part of the body. Essential tremor is driven by a central oscillation signal in the brain. However, the corticospinal mechanisms involved in the generation of essential tremor are unclear. Therefore, in this study, we used a neural computational model that includes both monosynaptic and multisynaptic corticospinal pathways interacting with a propriospinal neuronal network...
December 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/29316781/quantitative-assessment-of-hand-dysfunction-in-patients-with-early-parkinson-s-disease-and-focal-hand-dystonia
#16
Deepa Kandaswamy, MuthuKumar M, Mathew Alexander, Krishna Prabhu, Mahasampath Gowri S, Srinivasa Babu Krothapalli
Objective: Motor impairments related to hand function are common symptoms in patients with movement disorders, such as Parkinson's disease (PD) and focal hand dystonia (FHD). However, hand dysfunction has not been quantitatively assessed as a clinical tool for screening patient groups from healthy controls (HCs). The aim of our study was 1) to quantitatively assess hand dysfunction in patients with PD and FHD and its usefulness as a screening tool 2) to grade disease severity in PD and FHD based on hand dysfunction...
January 11, 2018: Journal of Movement Disorders
https://www.readbyqxmd.com/read/29315801/the-emerging-role-of-rab-gtpases-in-the-pathogenesis-of-parkinson-s-disease
#17
REVIEW
Yujing Gao, Gabrielle R Wilson, Sarah E M Stephenson, Kiymet Bozaoglu, Matthew J Farrer, Paul J Lockhart
The identification of pathogenic mutations in Ras analog in brain 39B (RAB39B) and Ras analog in brain 32 (RAB32) that cause Parkinson's disease (PD) has highlighted the emerging role of protein trafficking in disease pathogenesis. Ras analog in brain (Rab) Guanosine triphosphatase (GTPase) function as master regulators of membrane trafficking, including vesicle formation, movement along cytoskeletal networks, and membrane fusion. Recent studies have linked Rab GTPases with α-synuclein, Leucine-rich repeat kinase 2, and Vacuolar protein sorting 35, 3 key proteins in PD pathogenesis...
January 9, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29315459/pretherapeutic-functional-neuroimaging-predicts-tremor-arrest-after-thalamotomy
#18
C Tuleasca, E Najdenovska, J Régis, T Witjas, N Girard, J Champoudry, M Faouzi, J-P Thiran, M Bach Cuadra, M Levivier, D Van De Ville
OBJECTIVE: Essential tremor (ET) represents the most common movement disorder. Drug-resistant ET can benefit from standard stereotactic procedures (deep brain stimulation or radiofrequency thalamotomy) or alternatively minimally invasive high-focused ultrasound or radiosurgery. All aim at same target, thalamic ventro-intermediate nucleus (Vim). METHODS: The study included a cohort of 17 consecutive patients, with ET, treated only with left unilateral stereotactic radiosurgical thalamotomy (SRS-T) between September 2014 and August 2015...
January 7, 2018: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29305858/identification-of-a-candidate-enhancer-for-dmrt3-involved-in-spastic-cerebral-palsy-pathogenesis
#19
Naoto Kubota, Toshifumi Yokoyama, Nobuhiko Hoshi, Mikita Suyama
Cerebral palsy (CP) is a major neuronal disease and the most common movement disorder in children. Although environmental factors leading to CP have been greatly investigated, the genetic mechanism underlying CP is not well understood. Here we focused on two clinical reports that characterized a deletion involving the KANK1 gene locus in the 9p24.3 region. One report shows spastic CP and the other shows no spastic CP phenotype. Based on the epigenetic status and evolutionary conservation, we first found a functional genomic element at the noncoding region that was deleted only in patients with spastic CP...
January 3, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29304167/the-language-disorder-of-prion-disease-is-characteristic-of-a-dynamic-aphasia-and-is-rarely-an-isolated-clinical-feature
#20
Diana Caine, Akin Nihat, Philippa Crabb, Peter Rudge, Lisa Cipolotti, John Collinge, Simon Mead
BACKGROUND: Akinetic mutism is a key diagnostic feature of prion diseases, however, their rapidly progressive nature makes detailed investigation of the language disorder in a large cohort extremely challenging. This study aims to position prion diseases in the nosology of language disorders and improve early clinical recognition. METHODS: A systematic, prospective investigation of language disorders in a large cohort of patients diagnosed with prion diseases. 568 patients were included as a sub-study of the National Prion Monitoring Cohort...
2018: PloS One
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