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https://www.readbyqxmd.com/read/28943457/clinical-staging-of-fibrodysplasia-ossificans-progressiva-fop
#1
Robert J Pignolo, Frederick S Kaplan
Fibrodyplasia ossificans progressiva (FOP) is an ultra-rare genetic condition of heterotopic ossification (HO) that results in progressive loss of joint function, ultimately rendering movement impossible. Death is most commonly the result of thoracic insufficiency syndrome, or complications related to recurrent respiratory infections. There are no current treatments for FOP, but early and emerging clinical trials offer hope for this devastating disease. With the recent reporting of a comprehensive global natural history study, scales to assess joint dysfunction, and a more accurate prediction of joint survival, it is now possible to construct a conceptual framework for the clinical staging of FOP...
September 21, 2017: Bone
https://www.readbyqxmd.com/read/28943283/step-inhibition-reverses-behavioral-electrophysiologic-and-synaptic-abnormalities-in-fmr1-ko-mice
#2
Manavi Chatterjee, Pradeep K Kurup, Camilla J Lundbye, Anna Karina Hugger Toft, Jeemin Kwon, Jessie Benedict, Marija Kamceva, Tue G Banke, Paul J Lombroso
Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability, with additional symptoms including attention deficit and hyperactivity, anxiety, impulsivity, and repetitive movements or actions. The majority of FXS cases are attributed to a CGG expansion that leads to transcriptional silencing and diminished expression of fragile X mental retardation protein (FMRP). FMRP, an RNA binding protein, regulates the synthesis of dendritically-translated mRNAs by stalling ribosomal translation. Loss of FMRP leads to increased translation of some of these mRNAs, including the CNS-specific tyrosine phosphatase STEP (STriatal-Enriched protein tyrosine Phosphatase)...
September 21, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28943258/adaptation-of-feedforward-movement-control-is-abnormal-in-patients-with-cervical-dystonia-and-tremor
#3
Laura Avanzino, Andrea Ravaschio, Giovanna Lagravinese, Gaia Bonassi, Giovanni Abbruzzese, Elisa Pelosin
OBJECTIVE: It is under debate whether the cerebellum plays a role in dystonia pathophysiology and in the expression of clinical phenotypes. We investigated a typical cerebellar function (anticipatory movement control) in patients with cervical dystonia (CD) with and without tremor. METHODS: Twenty patients with CD, with and without tremor, and 17 healthy controls were required to catch balls of different load: 15 trials with a light ball, 25 trials with a heavy ball (adaptation) and 15 trials with a light ball (post-adaptation)...
September 9, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28940492/preterm-and-term-equivalent-age-general-movements-and-1-year-neurodevelopmental-outcomes-for-infants-born-before-30%C3%A2-weeks-gestation
#4
Joy E Olsen, Leesa G Allinson, Lex W Doyle, Nisha C Brown, Katherine J Lee, Abbey L Eeles, Jeanie L Y Cheong, Alicia J Spittle
AIM: To examine the associations between Prechtl's general movements assessment (GMA), conducted from birth to term-equivalent age, and neurodevelopmental outcomes at 12 months corrected age, in infants born very preterm. METHOD: One hundred and thirty-seven infants born before 30 weeks' gestation had serial GMA (categorized as 'normal' or 'abnormal') before term and at term-equivalent age. At 12 months corrected age, neurodevelopment was assessed using the Alberta Infant Motor Scale (AIMS); Neurological, Sensory, Motor, Developmental Assessment (NSMDA); and Touwen Infant Neurological Examination (TINE)...
September 21, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28940157/climbing-fiber-development-is-impaired-in-postnatal-car8-wdl-mice
#5
Lauren N Miterko, Roy V Sillitoe
The cerebellum is critical for an array of motor functions. During postnatal development, the Purkinje cells (PCs) guide afferent topography to establish the final circuit. Perturbing PC morphogenesis or activity during development can result in climbing fiber (CF) multi-innervation or mis-patterning. Structural defects during circuit formation typically have long-term effects on behavior as they contribute to the phenotype of movement disorders such as cerebellar ataxia. The Car8 (wdl) mouse is one model in which early circuit destruction influences movement...
September 22, 2017: Cerebellum
https://www.readbyqxmd.com/read/28939329/potential-deficit-from-decreased-cerebellar-granule-cell-migration-in-serine-racemase-deficient-mice-is-reversed-by-increased-expression-of-glun2b-and-elevated-levels-of-nmdar-agonists
#6
He Zhang, Liping Song, Yuhua Chang, Mengjuan Wu, Xiuli Kuang, Haiyan Jiang, Shengzhou Wu
Inward migration of cerebellar granule cells (CGCs) after birth is critical for lamination in the cerebellar cortex. N-methyl-d-aspartate (NMDA) subtype of glutamate receptor (NMDAR) tethering CGCs into Bergmann glial fibers mediates the inward movement during the glial-dependent migratory phase. Activation of NMDAR depends on simultaneous binding of the GluN2 subunit by glutamate, and of the GluN1 subunit by d-serine or glycine; d-serine is believed to be an endogenous ligand of NMDAR. We hypothesized that lamination of the cerebellar cortex may be compromised in Srr (the gene for serine racemase (SR)) mutated mice (Srrnull) because of significantly low levels of d-serine per se...
September 19, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28933593/dynein-promotes-porcine-oocyte-meiotic-progression-by-maintaining-cytoskeletal-structures-and-cortical-granule-arrangement
#7
Yilong Miao, Changyin Zhou, Zhaokang Cui, Liansheng Tang, Xiayan ShiYang, Yajuan Lu, Mianqun Zhang, Xiaoxin Dai, Bo Xiong
Cytoplasmic dynein is a family of cytoskeletal motor proteins that move towards the minus-end of the microtubules to perform functions in a variety of mitotic processes such as cargo transport, organelle positioning, chromosome movement and centrosome assembly. However, its specific roles during mammalian oocyte meiosis have not been fully defined. Herein, we investigated the critical events during porcine oocyte meiotic maturation after inhibition of dynein by Ciliobrevin D treatment. We found that oocyte meiotic progression was arrested when inhibited of dynein by showing the poor expansion of cumulus cells and decreased rate of polar body extrusion...
September 21, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28929129/an-automated-home-cage-system-to-assess-learning-and-performance-of-a-skilled-motor-task-in-a-mouse-model-of-huntington-s-disease
#8
Cameron L Woodard, Federico Bolaños, James D Boyd, Gergely Silasi, Timothy H Murphy, Lynn A Raymond
Behavioral testing is a critical step in assessing the validity of rodent models of neurodegenerative disease, as well as evaluating the efficacy of pharmacological interventions. In models of Huntington's disease (HD), a gradual progression of impairments is observed across ages, increasing the need for sensitive, high-throughput and longitudinal assessments. Recently, a number of automated systems have been developed to perform behavioral profiling of animals within their own home-cage, allowing for 24-h monitoring and minimizing experimenter interaction...
September 2017: ENeuro
https://www.readbyqxmd.com/read/28926419/peduncular-hallucinosis-and-autonomic-dysfunction-in-anti-aquaporin-4-antibody-syndrome
#9
Renee Berry, Peter K Panegyres
Neuromyelitis optica is a rare, severe inflammatory demyelinating disease of the central nervous system, previously described as affecting only the optic nerve and spinal cord. Since the discovery of a highly specific autoantibody, anti-aquaporin-4, lesions are now recognized outside these regions. We report a man with severe, debilitating symptoms resulting from a symptomatic lesion within the diencephalon, manifesting with abnormal circadian rhythms, autonomic dysfunction, behavioral disturbance, and complex visual hallucinations...
September 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28924105/the-successful-application-of-plasmapheresis-in-the-treatment-of-a-patient-with-opsoclonus-and-autoantibodies-to-glutamate-receptor-%C3%AE-2
#10
Kiyotaka Nakamagoe, Seitaro Nohara, Yukitoshi Takahashi, Mao Takiguchi, Rio Kawakami, Tadachika Koganezawa, Akira Tamaoka
Glutamate receptor δ2 (GluRδ2) is expressed in the neuronal postsynaptic densities at the junctions between the Purkinje cells and the parallel fibers. Recent reports have described patients with opsoclonus who possess anti-GluRδ2 antibodies. We report the case of a 53-year-old man with opsoclonus whose cerebrospinal fluid was positive for anti-GluRδ2 antibodies. Electronystagmography revealed abnormal sinusoidal eye movements, which were definitively identified as opsoclonus. The frequency and amplitude of saccadic oscillations diminished after plasmapheresis (PE)...
September 15, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28922189/acr-acnm-practice-parameter-for-the-performance-of-dopamine-transporter-dat-single-photon-emission-computed-tomography-spect-imaging-for-movement-disorders
#11
Rathan M Subramaniam, Kirk A Frey, Christopher H Hunt, Gustavo A Mercier, Lilja B Solnes, Patrick M Colletti, Yang Lu, Bital Savir-Baruch, Hadyn T Williams
This American College of Radiology and American College of Nuclear Medicine joint clinical practice parameter is for performance of dopamine transporter single photon emission computed tomography (SPECT) imaging, for patients with movement disorders. Parkinsonian syndrome (PS) consists of a group of neurodegenerative diseases including Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and dementia with Lewy bodies (DLB). Accurate diagnosis of PS is critical for clinical management...
September 15, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28919765/scopolamine-alleviates-involuntary-lingual-movements-tardive-dyskinesia-or-dystonia
#12
Jianbo Hu, Jianbo Lai, Shaohua Hu, Yi Xu
Cholinergic hypofunction was believed to be associated with the pathogenesis of tardive dyskinesia, and therefore, anticholinergic treatment might exacerbate the condition. We describe herein a middle-aged male with feeble chewing movements, involuntary rolling motions of the tongue, and abnormally tightened cheeks which developed after consuming different psychotropic medications. These symptoms did not improve after routine treatment for tardive dyskinesia, but responded well to anticholinergic agents, such as scopolamine and benzhexol hydrochloride...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28913514/the-incidence-of-needle-stick-and-sharp-injuries-and-their-associations-with-visual-function-among-hospital-nurses
#13
Mohammad Ghasemi, Mehdi Khabazkhoob, Hassan Hashemi, Abbasali Yekta, Payam Nabovati
PURPOSE: To determine the one-year incidence of needle stick and sharp injuries (NSIs and SIs) and their associations with visual function among Iranian nurses. METHODS: In this cross-sectional study, 278 nurses working at one hospital were selected through stratified random sampling. After applying the exclusion criteria, the final analysis was performed on the data of 267 nurses. The data of occupational injuries were collected through a researcher-administered questionnaire...
September 2017: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/28911825/paving-the-rho-in-cancer-metastasis-rho-gtpases-and-beyond
#14
REVIEW
Sepp Jansen, Reinoud Gosens, Thomas Wieland, Martina Schmidt
Malignant carcinomas are often characterized by metastasis, the movement of carcinoma cells from a primary site to colonize distant organs. For metastasis to occur, carcinoma cells first must adopt a pro-migratory phenotype and move through the surrounding stroma towards a blood or lymphatic vessel. Currently, there are very limited possibilities to target these processes therapeutically. The family of Rho GTPases is an ubiquitously expressed division of GTP-binding proteins involved in the regulation of cytoskeletal dynamics and intracellular signaling...
September 11, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28911048/what-can-different-motor-circuits-tell-us-about-psychosis-an-rdoc-perspective
#15
Vijay A Mittal, Jessica A Bernard, Georg Northoff
Signs of motor dysfunction are evidenced across a range of psychiatric disorders including schizophrenia. Historically, these features have been neglected but emerging theoretical and methodological advancements have shed new light on the utility of considering movement abnormalities. Indeed, the National Institute of Mental Health Research Domain Criteria initiative has recently met to develop a Motor Systems Domain. This reflects a growing appreciation for the enhanced reliability and validity that can come along with evaluating disturbances relevant to psychiatric illnesses from multiple levels of analysis, and conceptualizing these domains with respect to the complexity of their role in a broader integrated system (ie, weighing contributions and interactions between the cognitive, affective, and motor domains)...
September 1, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28904568/pediatric-autoimmune-encephalitis
#16
REVIEW
Massimo Barbagallo, Giovanna Vitaliti, Piero Pavone, Catia Romano, Riccardo Lubrano, Raffaele Falsaperla
Autoimmune (antibody mediated) encephalitis (AE) is emerging as a more common cause of pediatric encephalopathy than previously thought. The autoimmune process may be triggered by an infection, vaccine, or occult neoplasm. In the latter case, onconeural autoantibodies are directed against intracellular neuronal antigens, but a recent heterogeneous group of encephalitic syndromes has been found not to have underlying tumor but is associated with autoantibodies to the neuronal surface or synaptic antigens. Neuropsychiatric symptoms are very common in autoimmune encephalopathy; as a result, affected children may be initially present to psychiatrists...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28904507/adjunctive-melatonin-for-tardive-dyskinesia-in-patients-with-schizophrenia-a-meta-analysis
#17
Chen-Hui Sun, Wei Zheng, Xin-Hu Yang, Dong-Bin Cai, Chee H Ng, Gabor S Ungvari, Hai-Yan Li, Yu-Jie Wu, Yu-Ping Ning, Yu-Tao Xiang
BACKGROUND: Tardive dyskinesia (TD) is characterized by abnormal and involuntary movements. Importantly, TD could cause considerable personal suffering and social and physical disabilities. AIMS: This meta-analysis based on randomized controlled trials (RCTs) systematically assessed the therapeutic effect and tolerability of melatonin for TD in schizophrenia. METHODS: A computerized and systematical search of both Chinese (Wanfang Data, Chinese National Knowledge Infrastructure (CNKI), SINOMED) and English (PubMed, PsycINFO, Embase, Cochrane Library databases) databases, from their inception until June 8, 2017, was conducted by two independent authors...
June 25, 2017: Shanghai Archives of Psychiatry
https://www.readbyqxmd.com/read/28903372/myosin-va-plays-essential-roles-in-maintaining-normal-mitosis-enhancing-tumor-cell-motility-and-viability
#18
Yan-Ruide Li, Ai Zhong, Han Dong, Lu-Han Ni, Fu-Qing Tan, Wan-Xi Yang
Myosin Va, a member of Class V myosin, functions in organelle motility, spindle formation, nuclear morphogenesis and cell motility. The purpose of this study is to explore the expression and localization of myosin Va in testicular cancer and prostate cancer, and its specific roles in tumor progression including cell division, migration and proliferation. We detected myosin Va in testicular and prostate tumor tissues using sqRT-PCR, western blot, and immunofluorescence. Tumor samples showed an increased expression of myosin Va, abnormal actin and myosin Va distribution...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28903010/effect-of-loading-on-in-vivo-tibiofemoral-and-patellofemoral-kinematics-of-healthy-and-acl-reconstructed-knees
#19
Jarred M Kaiser, Michael F Vignos, Richard Kijowski, Geoffrey Baer, Darryl G Thelen
BACKGROUND: Although knees that have undergone anterior cruciate ligament reconstruction (ACLR) often exhibit normal laxity on clinical examination, abnormal kinematic patterns have been observed when the joint is dynamically loaded during whole body activity. This study investigated whether abnormal knee kinematics arise with loading under isolated dynamic movements. HYPOTHESIS: Tibiofemoral and patellofemoral kinematics of ACLR knees will be similar to those of the contralateral uninjured control knee during passive flexion-extension, with bilateral differences emerging when an inertial load is applied...
September 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28901961/effect-of-stretching-on-thoracolumbar-fascia-injury-and-movement-restriction-in-a-porcine-model
#20
Helene M Langevin, James Bishop, Rhonda Maple, Gary J Badger, James R Fox
OBJECTIVE: Stretching of fascia is an important component of manual and movement therapies. We previously showed that in pigs, a unilateral thoracolumbar fascia injury combined with movement restriction (hobble) produced contralateral loss of fascia mobility (shear strain during passive trunk flexion measured with ultrasound) similar to findings in human subjects with chronic low back pain. We now tested whether such abnormalities could be reversed by removing the hobble with or without daily stretching for 1 mo...
September 10, 2017: American Journal of Physical Medicine & Rehabilitation
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