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https://www.readbyqxmd.com/read/30550014/acute-psychosis-and-movement-disorders-as-first-presentations-of-wilson-s-disease
#1
Yuval Raveh, Tawfik Khoury, Moshe Lachish, Rifaat Safadi, Yoav Kohn
No abstract text is available yet for this article.
December 2018: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/30549301/genotype-extrapyramidal-features-and-severity-of-variant-ataxia-telangiectasia
#2
Katherine Schon, Nienke van Os, Nicholas Oscroft, Helen Baxendale, Daniel Scoffings, Julian Ray, Mohnish Suri, William P Whitehouse, Puja R Mehta, Natasha Everett, Leonardo Bottolo, Bart P van de Warrenburg, Philip J Byrd, Corry Weemaes, Michel A Willemsen, Marc Tischkowitz, A Malcolm Taylor, Anke E Hensiek
OBJECTIVE: Variant Ataxia-Telangiectasia is caused by mutations that allow some retained ATM kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant Ataxia-Telangiectasia and explore genotype-phenotype correlations. METHODS: Cross-sectional data were collected retrospectively. Patients were classified as variant Ataxia-Telangiectasia based on retained ATM kinase activity. RESULTS: The study includes 57 individuals...
December 14, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/30548343/neuroinflammation-in-the-central-nervous-system-symphony-of-glial-cells
#3
REVIEW
Qiao-Qiao Yang, Jia-Wei Zhou
Neuroinflammation in the central nervous system (CNS) is an important subject of neuroimmunological research. Emerging evidence suggests that neuroinflammation is a key player in various neurological disorders, including neurodegenerative diseases and CNS injury. Neuroinflammation is a complex and well-orchestrated process by various groups of glial cells in CNS and peripheral immune cells. The cross-talks between various groups of glial cells in CNS neuroinflammation is an extremely complex and dynamic process which resembles a well-orchestrated symphony...
December 11, 2018: Glia
https://www.readbyqxmd.com/read/30547835/genetic-variability-of-the-aedes-aegypti-diptera-culicidae-mosquito-in-el-salvador-vector-of-dengue-yellow-fever-chikungunya-and-zika
#4
Andrea L Joyce, Melany Murillo Torres, Ryan Torres, Miguel Moreno
BACKGROUND: Aedes aegypti is associated with dengue, yellow fever, chikungunya and Zika viruses. This vector is widespread in tropical and subtropical areas, and can also occur in temperate areas at higher latitudes. The geographical distribution of Ae. aegypti continues to spread due to human activities. This is the first study to examine the population genetic structure of this insect in El Salvador, Central America. METHODS: Aedes aegypti larvae were collected from six geographical regions of El Salvador: Sonsonate, San Salvador, Chalatenango, Usulután, San Miguel and Morazán...
December 14, 2018: Parasites & Vectors
https://www.readbyqxmd.com/read/30547807/why-orthotic-devices-could-be-of-help-in-the-management-of-movement-disorders-in-the-young
#5
REVIEW
Lorenzo Garavaglia, Emanuela Pagliano, Giovanni Baranello, Simone Pittaccio
BACKGROUND: Movement Disorders (MD) are a class of disease that impair the daily activities of patients, conditioning their sensorimotor, cognitive and behavioural capabilities. Nowadays, the general management of patients with MD is based on rehabilitation, pharmacological treatments, surgery, and traditional splints. Although some attempts have been made to devise specific orthoses for the rehabilitation of patients affected by MD, especially the younger ones, those devices have received limited attention...
December 14, 2018: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/30547276/preytaxis-and-travelling-waves-in-an-eco-epidemiological-model
#6
Andrew M Bate, Frank M Hilker
Preytaxis is the attraction (or repulsion) of predators along prey density gradients and a potentially important mechanism for predator movement. However, the impact preytaxis has on the spatial spread of a predator invasion or of an epidemic within the prey has not been investigated. We investigate the effects preytaxis has on the wavespeed of several different invasion scenarios in an eco-epidemiological system. In general, preytaxis cannot slow down predator or disease invasions and there are scenarios where preytaxis speeds up predator or disease invasions...
December 13, 2018: Bulletin of Mathematical Biology
https://www.readbyqxmd.com/read/30547248/glucose-metabolic-brain-patterns-to-discriminate-amyotrophic-lateral-sclerosis-from-parkinson-plus-syndromes
#7
Martijn Devrome, Donatienne Van Weehaeghe, Joke De Vocht, Philip Van Damme, Koen Van Laere, Michel Koole
BACKGROUND: 18 F-FDG brain PET measures metabolic changes in neurodegenerative disorders and may discriminate between different diseases even at an early stage. The objective of this study was to classify patients with amyotrophic lateral sclerosis (ALS) and Parkinson plus syndromes (PP). To this end, different approaches were evaluated using generalized linear models and corresponding glucose metabolic brain patterns. Besides direct classification, healthy controls were also included to generate disease-specific metabolic brain patterns and to perform a classification using disease expression scores...
December 13, 2018: EJNMMI Research
https://www.readbyqxmd.com/read/30545210/the-option-of-motion-preservation-in-cervical-spondylosis-cervical-disc-arthroplasty-update
#8
Chih-Chang Chang, Wen-Cheng Huang, Jau-Ching Wu, Praveen V Mummaneni
Cervical disc arthroplasty (CDA), or total disc replacement, has emerged as an option in the past two decades for the management of 1- and 2-level cervical disc herniation and spondylosis causing radiculopathy, myelopathy, or both. Multiple prospective randomized controlled trials have demonstrated CDA to be as safe and effective as anterior cervical discectomy and fusion, which has been the standard of care for decades. Moreover, CDA successfully preserved segmental mobility in the majority of surgical levels for 5-10 years...
December 14, 2018: Neurospine
https://www.readbyqxmd.com/read/30543681/biallelic-mutations-in-nucleoporin-nup88-cause-lethal-fetal-akinesia-deformation-sequence
#9
Edith Bonnin, Pauline Cabochette, Alessandro Filosa, Ramona Jühlen, Shoko Komatsuzaki, Mohammed Hezwani, Achim Dickmanns, Valérie Martinelli, Marjorie Vermeersch, Lynn Supply, Nuno Martins, Laurence Pirenne, Gianina Ravenscroft, Marcus Lombard, Sarah Port, Christiane Spillner, Sandra Janssens, Ellen Roets, Jo Van Dorpe, Martin Lammens, Ralph H Kehlenbach, Ralf Ficner, Nigel G Laing, Katrin Hoffmann, Benoit Vanhollebeke, Birthe Fahrenkrog
Nucleoporins build the nuclear pore complex (NPC), which, as sole gate for nuclear-cytoplasmic exchange, is of outmost importance for normal cell function. Defects in the process of nucleocytoplasmic transport or in its machinery have been frequently described in human diseases, such as cancer and neurodegenerative disorders, but only in a few cases of developmental disorders. Here we report biallelic mutations in the nucleoporin NUP88 as a novel cause of lethal fetal akinesia deformation sequence (FADS) in two families...
December 13, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/30543641/review-of-epidemiological-risk-models-for-foot-and-mouth-disease-implications-for-prevention-strategies-with-a-focus-on-africa
#10
Bachir Souley Kouato, Kris De Clercq, Emmanuel Abatih, Fabiana Dal Pozzo, Donald P King, Eric Thys, Hamani Marichatou, Claude Saegerman
Foot-and-mouth disease (FMD) is a highly infectious transboundary disease that affects domestic and wild cloven-hoofed animal species. The aim of this review was to identify and critically assess some modelling techniques for FMD that are well supported by scientific evidence from the literature with a focus on their use in African countries where the disease remains enzootic. In particular, this study attempted to provide a synopsis of the relative strengths and weaknesses of these models and their relevance to FMD prevention policies...
2018: PloS One
https://www.readbyqxmd.com/read/30541866/age-and-time-course-of-long-term-motor-and-nonmotor-complications-in-parkinson-disease
#11
Stéphane Prange, Teodor Danaila, Chloé Laurencin, Catherine Caire, Elise Metereau, Hélène Merle, Emmanuel Broussolle, Delphine Maucort-Boulch, Stéphane Thobois
OBJECTIVE: To determine the time course of hazard for motor and nonmotor milestones of Parkinson disease (PD) in the long term and to investigate whether risk scales nonlinearly with time is instrumental in identifying changes in pathological processes and evaluating disease-modifying therapies in PD. METHODS: Outpatients with PD at the Lyon University Movement Disorders Center were evaluated for 7 clinical milestones in this retrospective cohort study, encompassing 4 domains of PD progression: (1) motor (motor fluctuations, dyskinesias); (2) axial (postural instability and falls, freezing of gait); (3) neuropsychiatric (impulse control disorders, hallucinations); and (4) cognitive (dementia) complications...
December 12, 2018: Neurology
https://www.readbyqxmd.com/read/30541616/association-between-cesarean-section-and-constipation-in-infants-the-japan-environment-and-children-s-study-jecs
#12
Taketoshi Yoshida, Kenta Matsumura, Akiko Tsuchida, Kei Hamazaki, Hidekuni Inadera
OBJECTIVE: There have been increasing reports on the association between cesarean section (C-section) and the subsequent development of diseases in infants. C-section affects the diversity of microbiota in the infant's gut. In the present study, we investigated the association between infants delivered by C-section and the development of constipation at 1 year old due to altered gut microbiota using data from the Japan Environment and Children's Study (JECS). RESULTS: This cohort study (n = 83,019) used data from JECS, an ongoing cohort study which began in January 2011...
December 12, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/30541502/transboundary-nomadic-population-movement-a-potential-for-import-export-of-poliovirus
#13
Samuel Bawa, Mojisola Afolabi, Khalid Abdelrahim, Goni Abba, Adamu Ningi, Salome Yakubu Tafida, Sisay G Tegegne, Charity Warigon, Terna Nomhwange, Sadiq Abubakar Umar, Aron Aregay, Ahmed Fanti, Bakoji Ahmed, Peter Nsubuga, Usman Adamu, Fiona Braka, Alemu Wondimagegnehu, Faisal Shuaib
BACKGROUND: Nomadic populations have a considerably higher risk of contracting a number of diseases but, despite the magnitude of the public health risks involved, they are mostly underserved with few health policies or plans to target them. Nomadic population movements are shown to be a niche for the transmission of diseases, including poliomyelitis. The nomadic routes traverse the northern states of Nigeria to other countries in the Lake Chad subregion. As part of the February 2016 polio supplemental immunization activity (SIA) plans in Bauchi state, a review of nomadic routes and populations identified a nomadic population who originated from outside the international borders of Nigeria...
December 13, 2018: BMC Public Health
https://www.readbyqxmd.com/read/30540906/orphan-receptor-gpr88-as-an-emerging-neurotherapeutic-target
#14
Na Ye, Bang Li, Qi Mao, Eric A Wold, Sheng Tian, John A Allen, Jia Zhou
While G protein-coupled receptors (GPCRs) are recognized as pivotal drug targets involved in multiple physiological and pathological processes, the majority of GPCRs including orphan GPCRs (oGPCRs) are unexploited. GPR88, a brain-specific oGPCR with particularly robust expression in the striatum, regulates diverse brain and behavioral functions including cognition, mood, movement control and reward-based learning, and is thus emerging as a novel drug target for CNS disorders including schizophrenia, Parkinson's disease, anxiety and addiction...
December 12, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/30538867/bilateral-cerebrovascular-stroke-as-an-initial-presenting-symptom-of-moyamoya-disease
#15
Ester Ilyayeva, Khaled Nada, Roxane Farahi Far, Kamal Albright, Manmeet Kaur Gujral, Menachem Gold
Moyamoya disease is a rare condition affecting the circle of Willis and its branching arteries. While the pathogenesis is unclear, it causes progressive occlusion of multiple cerebral vessels leading to severe strokes. We report a case of a 47-year-old Hispanic woman with HTN presented with altered mental status and bilateral upper and lower extremity weakness with dystonic-like upper extremity movement. Serial brain CTs and angiography were performed which showed massive frontal and parietal cerebral infarcts with radiological evidence of moyamoya disease...
2018: Case Reports in Critical Care
https://www.readbyqxmd.com/read/30538716/the-movement-of-fusarium-oxysporum-f-sp-cubense-sub-tropical-race-4-in-susceptible-cultivars-of-banana
#16
Noeleen M Warman, Elizabeth A B Aitken
Fusarium wilt, caused by the fungus Fusarium oxysporum f.sp. cubense ( Foc ), is one of the most important and destructive diseases in banana crops worldwide. There have been numerous studies into the infection process of this soil-borne pathogen; however, the extent of research into the movement of the pathogen through the rhizome and into the rest of the plant is limited. Furthermore, little is known about the movement of the pathogen once it reaches the aerial components of the plant. A strain of Foc sub-tropical race 4, genetically transformed with green fluorescent protein (GFP) gene, was used to monitor the movement of the pathogen through two susceptible cultivars, Cavendish 'Williams' ( Musa AAA) and Lady Finger ( Musa AAB)...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/30538480/aberrantly-expressed-long-noncoding-rnas-and-genes-in-parkinson-s-disease
#17
Yong Zhou, Chengzhi Gu, Jia Li, Lianhai Zhu, Guoxiang Huang, Jie Dai, Huaiyu Huang
Purpose: Parkinson's disease (PD) is a common neurodegenerative movement disorder, but the pathogenesis remains elusive. This study was aimed to explore key genes and long noncoding RNAs (lncRNAs) associated with PD. Materials and methods: Three patients with PD and three normal controls were enrolled in the present study from July 12, 2017, to August 29, 2017. RNA sequencing and bioinformatics analysis were performed to obtain differentially expressed micro RNAs (DEmRNAs) and lncRNAs (DElncRNAs) between patients with PD and normal controls...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/30537631/the-association-between-parkinson-s-disease-symptom-side-of-onset-and-performance-on-the-mds-updrs-scale-part-iv-motor-complications
#18
Allison A Bay, Ariel R Hart, W Michael Caudle, Daniel M Corcos, Madeleine E Hackney
INTRODUCTION: Parkinson's disease (PD) is a neurodegenerative condition associated with aging characterized by loss of dopamine-producing neurons in the substantia nigra pars compacta and a reduction in dopamine levels in the striatum. PD is commonly treated using dopamine-replacement medication called levodopa. Levodopa has decreasing efficacy over time. Periods when levodopa is not effective at controlling symptoms of PD are called "OFF-time" or "medication-related motor fluctuations," (MRMF)...
December 4, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/30537465/preferences-for-rural-specialist-health-care-in-the-treatment-of-parkinson
#19
Veronica Coady, Narelle Warren, Nancy Bilkhu, Darshini Ayton
People living with Parkinson's disease (PWPD) in rural areas have limited access to local condition-specific care. This paper examines the healthcare preferences of PWPD living in rural areas and how a community-driven initiative to employ a movement disorder nurse (MDN) functioned to address barriers to health services access. A qualitative design facilitated an understanding of how interactions with the health system shaped PWPD and their carer's experiences of living in a regional community. A total of 42 semi-structured interviews were conducted 6-9 months apart; 19 interviews with PWPD and 23 dyadic interviews...
December 12, 2018: Australian Journal of Primary Health
https://www.readbyqxmd.com/read/30537300/utility-and-implications-of-exome-sequencing-in-early-onset-parkinson-s-disease
#20
Joanne Trinh, Katja Lohmann, Hauke Baumann, Alexander Balck, Max Borsche, Norbert Brüggemann, Leon Dure, Marissa Dean, Jens Volkmann, Sinem Tunc, Jannik Prasuhn, Heike Pawlack, Sophie Imhoff, Christina M Lill, Meike Kasten, Peter Bauer, Arndt Rolfs, Christine Klein
BACKGROUND: Although the genetic load is high in early-onset Parkinson's disease, thorough investigation of the genetic diagnostic yield has yet to be established. The objectives of this study were to assess variants in known genes for PD and other movement disorders and to find new candidates in 50 patients with early-onset PD. METHODS: We searched for variants either within genes listed by the International Parkinson and Movement Disorder Society Task Force on Genetic Nomenclature or rare homozygous variants in novel candidate genes...
December 10, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
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