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https://www.readbyqxmd.com/read/29352154/resting-state-brain-networks-in-the-prairie-vole
#1
Juan J Ortiz, Wendy Portillo, Raul G Paredes, Larry J Young, Sarael Alcauter
Resting state functional magnetic resonance imaging (rsfMRI) has shown the hierarchical organization of the human brain into large-scale complex networks, referred as resting state networks. This technique has turned into a promising translational research tool after the finding of similar resting state networks in non-human primates, rodents and other animal models of great value for neuroscience. Here, we demonstrate and characterize the presence of resting states networks in Microtus ochrogaster, the prairie vole, an extraordinary animal model to study complex human-like social behavior, with potential implications for the research of normal social development, addiction and neuropsychiatric disorders...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29351396/mechanisms-of-repetitive-retrograde-contractions-in-response-to-sustained-esophageal-distension-a-study-evaluating-patients-with-post-fundoplication-dysphagia
#2
Dustin A Carlson, Peter J Kahrilas, Katherine Ritter, Zhiyue Lin, John E Pandolfino
BACKGROUND: Repetitive, retrograde contractions (RRCs) in response to sustained esophageal distension are a distinct contractility pattern observed with functional luminal imaging probe (FLIP) panometry that are common in type III (spastic) achalasia. RRCs are hypothesized to be indicative of either impaired inhibitory innervation or esophageal outflow obstruction. We aimed to apply FLIP panometry to patients with post-fundoplication dysphagia (a model of esophageal obstruction) to explore mechanisms behind RRCs...
December 21, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/29350659/thiopental-is-better-than-propofol-for-electroconvulsive-therapy
#3
Massimiliano Nuzzi, Dario Delmonte, Barbara Barbini, Laura Pasin, Ornella Sottocorna, Giuseppina Maria Casiraghi, Cristina Colombo, Giovanni Landoni, Alberto Zangrillo
BACKGROUND AND AIM OF THE WORK: electroconvulsive therapy is a psychiatric procedure requiring general anesthesia. The choice of the hypnotic agent is important because the success of the intervention is associated to the occurrence and duration of motor convulsion. However, all available anesthetic agents have anti-convulsant activity. We compared the effect of thiopental and propofol on seizures. METHODS: We designed a retrospective study at Mood Disorders Unit of a teaching Hospital...
January 16, 2018: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/29350366/health-results-of-a-coup-attempt-evaluation-of-all-patients-admitted-to-hospitals-in-istanbul-due-to-injuries-sustained-during-the-july-15-2016-coup-attempt
#4
İsmail Tayfur, Mustafa Ahmet Afacan, Mehmet Özgür Erdoğan, Şahin Çolak, Özgür Söğüt, Burcu Genç Yavuz, Korkut Bozan
BACKGROUND: A coup attempt against the government took place in Turkey on July 15, 2016. This attempt caused serious injuries and deaths in the country. In this study, the data of patients referred to all hospitals in Istanbul during the attempt were evaluated, and differences between natural disasters, other terrorist actions, and coup attempts were analyzed. METHODS: In total, 1104 patients were injured in the abovementioned coup attempt. In this study, the demographic and health information of 882 coup victims who were admitted to all hospitals (state and private) in Istanbul on July 15 and 16, 2016 and registered at the Crisis Center of Istanbul Provincial Health Directorate was analyzed...
January 2018: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/29349629/cerebellum-from-development-to-disease-the-8th-international-symposium-of-the-society-for-research-on-the-cerebellum-and-ataxias
#5
EDITORIAL
Hassan Marzban, Mario Manto, Jean Mariani
In recent years, there has been tremendous growth in research on cerebellar motor and non-motor functions. Cerebellum is particularly involved in the spectrum of neurodevelopmental diseases. The 8th International Symposium of the Society for Research on the Cerebellum and Ataxia (SRCA) was held in Winnipeg, Manitoba, (Canada) on May 24-26, 2017. The main theme of the 8th International Symposium was "Development of the Cerebellum and Neurodevelopmental Disorders." Advances in genetics, epigenetic, cerebellar neurogenesis, axonogenesis and gliogenesis, cerebellar developmental disorders including autism spectrum disorders (ASD), neuroimaging, cerebellar ataxias, medulloblastoma, and clinical investigation of cerebellar diseases were presented...
January 18, 2018: Cerebellum
https://www.readbyqxmd.com/read/29348485/motor-signatures-of-emotional-reactivity-in-frontotemporal-dementia
#6
Charles R Marshall, Chris J D Hardy, Lucy L Russell, Camilla N Clark, Rebecca L Bond, Katrina M Dick, Emilie V Brotherhood, Cath J Mummery, Jonathan M Schott, Jonathan D Rohrer, James M Kilner, Jason D Warren
Automatic motor mimicry is essential to the normal processing of perceived emotion, and disrupted automatic imitation might underpin socio-emotional deficits in neurodegenerative diseases, particularly the frontotemporal dementias. However, the pathophysiology of emotional reactivity in these diseases has not been elucidated. We studied facial electromyographic responses during emotion identification on viewing videos of dynamic facial expressions in 37 patients representing canonical frontotemporal dementia syndromes versus 21 healthy older individuals...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29345153/selective-serotonin-reuptake-inhibitor-use-in-pregnant-women-pharmacogenetics-drug-drug-interactions-and-adverse-effects
#7
Asher Ornoy, Gideon Koren
Possible negative effects of selective serotonin reuptake inhibitors (SSRIs) in pregnancy relate to congenital anomalies, negative perinatal events and neurodevelopmental outcome. Many studies are confounded by the underlying maternal disease and by pharmacogenetic and pharmacokinetic differences of these drugs. Areas covered: The possible interactions of SSRIs and serotonin and norepinephrine reuptake inhibitors with other drugs and the known effects of SSRIs on congenital anomalies, perinatal and neurodevelopmental outcome...
January 18, 2018: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/29344929/pla2g6-deficiency-in-zebrafish-leads-to-dopaminergic-cell-death-axonal-degeneration-increased-%C3%AE-synuclein-expression-and-defects-in-brain-functions-and-pathways
#8
Elena Sánchez, Luis J Azcona, Coro Paisán-Ruiz
This study aimed to gain insights into the pathophysiology underlying PLA2G6-associated neurodegeneration that is implicated in three different neurological disorders, suggesting that other, unknown genetic or environmental factors might contribute to its wide phenotypic expression. To accomplish this, we downregulated the function of pla2g6 in the zebrafish nervous system, performed parkinsonism-related phenotypic characterization, and determined the effects of gene regulation upon the loss of pla2g6 function by using RNA sequencing and downstream analyses...
January 17, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29344865/isolation-of-distinct-types-of-neurons-from-fresh-brain-tissue-using-laser-microdissection-in-combination-with-high-performance-liquid-chromatography-mass-spectrometry
#9
Luisa Aring, Simone Steinbach, Katrin Marcus, Caroline May
Humans age and the ageing process affects cells in all areas of the human body, including nerve cells within the brain. With advancing age there is also a rise in the probability of developing a neurodegenerative disorder such as, e.g., amyotrophic lateral sclerosis, Huntington's disease, Parkinson's disease, or Alzheimer's disease. In all these age-related neurodegenerative disorders, distinct neuron populations within specific brain regions are primarily affected. For example, Parkinson's disease is characterized by a slowly progressive degeneration of dopaminergic neurons in the substantia nigra whereas the entorhinal cortex is first affected in Alzheimer's disease...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29343805/biallelic-variants-in-kif14-cause-intellectual-disability-with-microcephaly
#10
Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, Damir Musaev, Maha S Zaki, Iman G Mahmoud, Laila Selim, Amera Elbadawy, Shalini N Jhangiani, Zeynep H Coban Akdemir, Tomasz Gambin, Hanne S Sorte, Arvid Heiberg, Jennifer McEvoy-Venneri, Kiely N James, Valentina Stanley, Denice Belandres, Michel Guipponi, Federico A Santoni, Najmeh Ahangari, Fatemeh Tara, Mohammad Doosti, Justyna Iwaszkiewicz, Vincent Zoete, Paul Hoff Backe, Hanan Hamamy, Joseph G Gleeson, James R Lupski, Ehsan Ghayoor Karimiani, Stylianos E Antonarakis
Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants in KIF14 were detected; two loss-of-function (p.Asn83Ilefs*3 and p.Ser1478fs), and two missense substitutions (p...
January 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#11
REVIEW
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms...
January 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29342921/rna-targeted-therapies-and-amyotrophic-lateral-sclerosis
#12
REVIEW
Stéphane Mathis, Gwendal Le Masson
Amyotrophic lateral sclerosis (ALS) is a fatal motor disease in adults. Its pathophysiology remains mysterious, but tremendous advances have been made with the discovery of the most frequent mutations of its more common familial form linked to the C9ORF72 gene. Although most cases are still considered sporadic, these genetic mutations have revealed the role of RNA production, processing and transport in ALS, and may be important players in all ALS forms. There are no disease-modifying treatments for adult human neurodegenerative diseases, including ALS...
January 15, 2018: Biomedicines
https://www.readbyqxmd.com/read/29342448/generation-of-induced-pluripotent-stem-cell-line-cssi002-a-2851-from-a-patient-with-juvenile-huntington-disease
#13
Jessica Rosati, Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Barbara Torres, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Ferdinando Squitieri, Angelo Luigi Vescovi
Huntington Disease (HD) is an autosomal dominant disorder characterized by motor, cognitive and behavioral features caused by a CAG expansion in the HTT gene beyond 35 repeats. The juvenile form (JHD) may begin before the age of 20years and is associated with expanded alleles as long as 60 or more CAG repeats. In this study, induced pluripotent stem cells were generated from skin fibroblasts of a 8-year-old child carrying a large size mutation of 84 CAG repeats in the HTT gene. HD appeared at age 3 with mixed psychiatric (i...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29342244/gli2-rescues-delays-in-brain-development-induced-by-kif3a-dysfunction
#14
Jia-Long Chen, Chia-Hsiang Chang, Jin-Wu Tsai
The primary cilium in neural stem cells plays distinct roles in different stages during cortical development. Ciliary dysfunctions in human (i.e., ciliopathy) cause developmental defects in multiple organs, including brain developmental delays, which lead to intellectual disabilities and cognitive deficits. However, effective treatment to this devastating developmental disorder is still lacking. Here, we first investigated the effects of ciliopathy on neural stem cells by knocking down Kif3a, a kinesin II motor required for ciliogenesis, in the neurogenic stage of cortical development by in utero electroporation of mouse embryos...
January 12, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29341299/autonomous-purkinje-cell-axonal-dystrophy-causes-ataxia-in-peroxisomal-multifunctional-protein-2-deficiency
#15
Stephanie De Munter, Dorien Bamps, Ana Rita Malheiro, Ritesh Kumar Baboota, Pedro Brites, Myriam Baes
BACKGROUND: Peroxisomes play a crucial role in normal neurodevelopment and in the maintenance of the adult brain. This depends largely on intact peroxisomal β-oxidation given the similarities in pathologies between peroxisome biogenesis disorders and deficiency of multifunctional protein-2 (MFP2), the central enzyme of this pathway. Recently, adult patients diagnosed with cerebellar ataxia were shown to have mild mutations in the MFP2 gene, hydroxy-steroid dehydrogenase (17 beta) type 4 (HSD17B4)...
January 17, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29340614/association-of-polygenic-risk-score-with-cognitive-decline-and-motor-progression-in-parkinson-disease
#16
Kimberly C Paul, Jessica Schulz, Jeff M Bronstein, Christina M Lill, Beate R Ritz
Importance: Genetic factors have a well-known influence on Parkinson disease (PD) susceptibility. The largest genome-wide association study (GWAS) identified 26 independent single-nucleotide polymorphisms (SNPs) associated with PD risk. Among patients, the course and severity of symptom progression is variable, and little is known about the potential association of genetic factors with phenotypic variance. Objective: To assess whether GWAS-identified PD risk SNPs also have a cumulative association with the progression of cognitive and motor symptoms in patients with PD...
January 16, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29340590/efficacy-and-safety-of-deep-brain-stimulation-in-tourette-syndrome-the-international-tourette-syndrome-deep-brain-stimulation-public-database-and-registry
#17
Daniel Martinez-Ramirez, Joohi Jimenez-Shahed, James Frederick Leckman, Mauro Porta, Domenico Servello, Fan-Gang Meng, Jens Kuhn, Daniel Huys, Juan Carlos Baldermann, Thomas Foltynie, Marwan I Hariz, Eileen M Joyce, Ludvic Zrinzo, Zinovia Kefalopoulou, Peter Silburn, Terry Coyne, Alon Y Mogilner, Michael H Pourfar, Suketu M Khandhar, Man Auyeung, Jill Louise Ostrem, Veerle Visser-Vandewalle, Marie-Laure Welter, Luc Mallet, Carine Karachi, Jean Luc Houeto, Bryan Timothy Klassen, Linda Ackermans, Takanobu Kaido, Yasin Temel, Robert E Gross, Harrison C Walker, Andres M Lozano, Benjamin L Walter, Zoltan Mari, William S Anderson, Barbara Kelly Changizi, Elena Moro, Sarah Elizabeth Zauber, Lauren E Schrock, Jian-Guo Zhang, Wei Hu, Kyle Rizer, Erin H Monari, Kelly D Foote, Irene A Malaty, Wissam Deeb, Aysegul Gunduz, Michael S Okun
Importance: Collective evidence has strongly suggested that deep brain stimulation (DBS) is a promising therapy for Tourette syndrome. Objective: To assess the efficacy and safety of DBS in a multinational cohort of patients with Tourette syndrome. Design, Setting, and Participants: The prospective International Deep Brain Stimulation Database and Registry included 185 patients with medically refractory Tourette syndrome who underwent DBS implantation from January 1, 2012, to December 31, 2016, at 31 institutions in 10 countries worldwide...
January 16, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29340258/atypical-initial-presentation-of-painful-muscle-cramps-in-a-patient-with-amyotrophic-lateral-sclerosis-a-case-report-and-brief-review-of-the-literature
#18
Aaron R Kuzel, Muhammad Uzair Lodhi, Intekhab Askari Syed, Mustafa Rahim
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized clinically by progressive muscle weakness that can occur proximally or distally in either the upper or lower extremities. It includes both upper motor neuron signs (spasticity, hyperreflexia, clonus, and Babinski sign) and lower motor neuron signs (atrophy, weakness, and muscle fasciculation). Initial presentation of progressively painful muscle cramps should lead the physician to screen for other signs of amyotrophic lateral sclerosis...
November 10, 2017: Curēus
https://www.readbyqxmd.com/read/29339922/effect-of-rhythmic-auditory-cueing-on-gait-in-cerebral-palsy-a-systematic-review-and-meta-analysis
#19
REVIEW
Shashank Ghai, Ishan Ghai, Alfred O Effenberg
Auditory entrainment can influence gait performance in movement disorders. The entrainment can incite neurophysiological and musculoskeletal changes to enhance motor execution. However, a consensus as to its effects based on gait in people with cerebral palsy is still warranted. A systematic review and meta-analysis were carried out to analyze the effects of rhythmic auditory cueing on spatiotemporal and kinematic parameters of gait in people with cerebral palsy. Systematic identification of published literature was performed adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses and American Academy for Cerebral Palsy and Developmental Medicine guidelines, from inception until July 2017, on online databases: Web of Science, PEDro, EBSCO, Medline, Cochrane, Embase and ProQuest...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29339174/the-impact-of-strabismus-surgery-on-gait-pattern-in-patients-with-congenital-or-starting-within-one-year-of-age-strabismus
#20
Enrica Sipio, Anna Dickmann, Irene Aprile, Marco Germanotta, Chiara Simbolotti, Annabella Salerni, Gustavo Savino, Luca Padua
Strabismus is a common visual disorder that negatively affects walking and balance. Therapeutic interventions for strabismus include strabismus surgery. Few studies investigated the relationship between strabismus surgery and postural control while, to the best of our knowledge, none has been conducted to assess the influence of strabismus surgery on gait. Therefore, the aim of this study was to evaluate the locomotion characteristics over patients with congenital or starting within one year of age strabismus, one month and three months after strabismus surgery...
January 12, 2018: Neuroscience Letters
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