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https://www.readbyqxmd.com/read/28346892/characterizing-regression-in-phelan-mcdermid-syndrome-22q13-deletion-syndrome
#1
Gillian Reierson, Jon Bernstein, Wendy Froehlich-Santino, Alexander Urban, Carolin Purmann, Sean Berquist, Josh Jordan, Ruth O'Hara, Joachim Hallmayer
PURPOSE: To describe the frequency and characteristics of developmental regression in a sample of 50 patients with Phelan McDermid Syndrome (PMS) and investigate the possibility of association between regression, epilepsy, and electroencephalogram (EEG) abnormalities and deletion size. METHODS: The Autism Diagnostic Interview-Revised (ADI-R) was used to evaluate regression in patients with a confirmed diagnosis of PMS. Information on seizure history and EEGs was obtained from medical record review...
March 16, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28346865/repetitive-transcranial-magnetic-stimulation-for-the-treatment-of-executive-function-deficits-in-autism-spectrum-disorder-clinical-trial-approach
#2
Stephanie H Ameis, Zafiris J Daskalakis, Daniel M Blumberger, Pushpal Desarkar, Irene Drmic, Donald J Mabbott, Meng-Chuan Lai, Paul E Croarkin, Peter Szatmari
OBJECTIVE: Executive function (EF) deficits in patients with autism spectrum disorder (ASD) are ubiquitous and understudied. Further, there are no effective, neuroscience-based treatments to address this impairing feature of ASD. Repetitive transcranial magnetic stimulation (rTMS) has demonstrated promise in addressing EF deficits in adult neuropsychiatric disorders. This article will outline the design of a novel randomized-controlled trial of bilateral, 20 Hz, rTMS applied to the dorsolateral prefrontal cortex (DLPFC) for treatment of EF deficits in ASD that is currently ongoing...
March 27, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28346795/understanding-the-emission-impacts-of-hov-to-hot-lane-conversions-experience-from-atlanta-ga
#3
Yanzhi Ann Xu, Haobing Liu, Michael O Rodgers, Angshuman Guin, Michael Hunter, Adnan Sheikh, Randall L Guensler
Converting a congested High Occupancy Vehicle (HOV) lane into a High Occupancy Toll (HOT) lane is a viable option for improving travel time reliability for carpools and buses that use the managed lane. However, the emission impacts of HOV-to-HOT-conversions are not well understood. The lack of emissions impact quantification for HOT conversions creates a policy challenge for agencies making transportation funding choices. The goal of this paper is to evaluate the case study before-and-after changes in vehicle emissions for the Atlanta, GA I-85 HOV/HOT lane conversion project, implemented in October, 2011...
March 27, 2017: Journal of the Air & Waste Management Association
https://www.readbyqxmd.com/read/28346489/gonadotropin-releasing-hormone-receptor-gnrhr-gene-knock-out-normal-growth-and-development-of-sensory-motor-and-spatial-orientation-behavior-but-altered-metabolism-in-neonatal-and-prepubertal-mice
#4
Ellen R Busby, Nancy M Sherwood
Gonadotropin-releasing hormone (GnRH) is important in the control of reproduction, but its actions in non-reproductive processes are less well known. In this study we examined the effect of disrupting the GnRH receptor in mice to determine if growth, metabolism or behaviors that are not associated with reproduction were affected. To minimize the effects of other hormones such as FSH, LH and sex steroids, the neonatal-prepubertal period of 2 to 28 days of age was selected. The study shows that regardless of sex or phenotype in the Gnrhr gene knockout line, there was no significant difference in the daily development of motor control, sensory detection or spatial orientation among the wildtype, heterozygous or null mice...
2017: PloS One
https://www.readbyqxmd.com/read/28346241/hemodynamic-responses-to-magnetic-stimulation-of-carotid-sinus-in-normotensive-rabbits
#5
Jun Zhang, Qinqin Cao, Rongrong Li, Jingze Hu, Jiafei Dai, Hao Zhang, Huaiming Wang, Fang Yang, Ruidong Ye, Xinfeng Liu, Gelin Xu
OBJECTIVES: Carotid baroreflex plays a crucial role in regulating arterial pressure. Based on this knowledge, electrical stimulation of carotid sinus was designed for treating resistant hypertension. However, the clinical implication of electrical stimulation of carotid sinus is largely restrained due to obvious invasiveness. This study aimed to evaluate the efficacy of magnetic stimulation of carotid sinus (MSCS), a noninvasive strategy, for lowering blood pressure in rabbits. METHODS: MSCS with graded intensities and frequencies were systematically attempted in normotensive rabbits...
March 24, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28346224/mutant-%C3%AE-2-chimaerin-signals-via-bidirectional-ephrin-pathways-in-duane-retraction-syndrome
#6
Alicia A Nugent, Jong G Park, Yan Wei, Alan P Tenney, Nicole M Gilette, Michelle M DeLisle, Wai-Man Chan, Long Cheng, Elizabeth C Engle
Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from α2-chimaerin (CHN1) missense mutations. We report a knockin α2-chimaerin mouse (Chn1KI/KI) that models DRS. Whole embryo imaging of Chn1KI/KI mice revealed stalled abducens nerve growth and selective trochlear and first cervical spinal nerve guidance abnormalities. Stalled abducens nerve bundles did not reach the orbit, resulting in secondary aberrant misinnervation of the lateral rectus muscle by the oculomotor nerve...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28345787/non-motor-symptoms-and-quality-of-life-in-subjects-with-mild-parkinsonian-signs
#7
J Prasuhn, L Piskol, E-J Vollstedt, J Graf, A Schmidt, V Tadic, S Tunc, J Hampf, E Warrlich, C Bibergeil, J Hagenah, C Klein, M Kasten, N Brüggemann
BACKGROUND: Mild parkinsonian signs (MPS) are frequent in the elderly population and associated with the presence of risk markers for Parkinson's disease (PD). Both MPS and non-motor signs may be present in prodromal PD and may significantly impair quality of life (QoL). OBJECTIVE: To disentangle the contribution of motor impairment and extra-motor manifestations to QoL in subjects with MPS (n=63), manifest PD (n=69), disorders with motor symptoms due to non-neurodegenerative diseases (n=213) and healthy controls (n=258)...
March 27, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28345736/-kleine-levin-syndrome-differential-diagnosis-in-recurrent-encephalitic-syndromes-in-adolescence
#8
A Duat-Rodriguez, I Martinez-Albadalejo, I Perez-Sebastian, V Cantarin-Extremera, A Hedrera-Fernandez, J J Garcia-Penas
INTRODUCTION: The Kleine-Levin syndrome is a rare disease of unknown origin characterized by recurrent and self-limited episodes of hypersomnia that are also accompanied by a cognitive and behavioral dysfunction. Patients present normal sleeping and behavior patterns between episodes. CASE REPORTS: We present three patients who are 14 years old: two boys and one girl. They started having the episodes after a predisposing factor (vaccine, influenza B and menstruation)...
April 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28345733/-hand-fine-motor-skills-and-use-of-both-hand-and-arm-in-subjects-after-a-stroke-a-systematic-review
#9
M Ostolaza, J Abudarham, S Dilascio, E Drault-Boedo, S Gallo, A Garcete, M Kramer, M Maiaru, A Mendelevich, M Modica, F Peralta, C Sanchez-Correa
INTRODUCTION: In clinical practice it is important to be able to assess the function of the upper limb of the patient who has suffered a stroke. There is currently no systemic review that could identify assessment tools for the 'fine use of the hand' and 'use of both hand and arm'. AIMS: Primary, to identify observational tools which can assess the fine use of the hand and the use of both hand and arm in patients with stroke sequels. Secondary, to analyze the bias risk in the included articles, describing and categorizing the clinical utility, validity and reliability...
April 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28345642/dynamic-changes-in-amygdala-psychophysiological-connectivity-reveal-distinct-neural-networks-for-facial-expressions-of-basic-emotions
#10
Matteo Diano, Marco Tamietto, Alessia Celeghin, Lawrence Weiskrantz, Mona-Karina Tatu, Arianna Bagnis, Sergio Duca, Giuliano Geminiani, Franco Cauda, Tommaso Costa
The quest to characterize the neural signature distinctive of different basic emotions has recently come under renewed scrutiny. Here we investigated whether facial expressions of different basic emotions modulate the functional connectivity of the amygdala with the rest of the brain. To this end, we presented seventeen healthy participants (8 females) with facial expressions of anger, disgust, fear, happiness, sadness and emotional neutrality and analyzed amygdala's psychophysiological interaction (PPI). In fact, PPI can reveal how inter-regional amygdala communications change dynamically depending on perception of various emotional expressions to recruit different brain networks, compared to the functional interactions it entertains during perception of neutral expressions...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28345483/spinal-epidural-stimulation-strategies
#11
Prithvi K Shah, Igor Lavrov
Significant advancements in spinal epidural stimulation (ES) strategies to enable volitional motor control in persons with a complete spinal cord injury (SCI) have generated much excitement in the field of neurorehabilitation. Still, an obvious gap lies in the ability of ES to effectively generate a robust locomotor stepping response after a complete SCI in rodents, but not in humans. In order to reveal potential discrepancies between rodent and human studies that account for this void, in this review, we summarize the findings of studies that have utilized ES strategies to enable successful hindlimb stepping in spinal rats...
March 1, 2017: Neuroscientist: a Review Journal Bringing Neurobiology, Neurology and Psychiatry
https://www.readbyqxmd.com/read/28345153/the-functional-architectures-of-addition-and-subtraction-network-discovery-using-fmri-and-dcm
#12
Yang Yang, Ning Zhong, Karl Friston, Kazuyuki Imamura, Shengfu Lu, Mi Li, Haiyan Zhou, Haiyuan Wang, Kuncheng Li, Bin Hu
The neuronal mechanisms underlying arithmetic calculations are not well understood but the differences between mental addition and subtraction could be particularly revealing. Using fMRI and dynamic causal modeling (DCM), this study aimed to identify the distinct neuronal architectures engaged by the cognitive processes of simple addition and subtraction. Our results revealed significantly greater activation during subtraction in regions along the dorsal pathway, including the left inferior frontal gyrus (IFG), middle portion of dorsolateral prefrontal cortex (mDLPFC), and supplementary motor area (SMA), compared with addition...
March 27, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28345147/nerve-conduction-velocity-and-cross-sectional-area-in-ulnar-neuropathy-at-the-elbow
#13
Simon Podnar, Gregor Omejec, Marko Bodor
INTRODUCTION: In the precise localization of ulnar neuropathy at the elbow (UNE) we have noted discrepancies between electrodiagnostic (EDx) and ultrasonographic (US) findings. We aimed to explore the relationship between the two methods. METHODS: In a group of prospectively recruited patients with UNE, four blinded examiners took a history and performed neurologic, EDx and US examinations. The relationship between ulnar nerve cross-sectional area (CSA) and motor nerve conduction velocity (MNCV) was studied...
March 27, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28345011/cross-cultural-differences-of-the-non-motor-symptoms-studied-by-the-traditional-chinese-version-of-the-international-parkinson-and-movement-disorder-society-unified-parkinson-s-disease-rating-scale
#14
Rwei-Ling Yu, Ruey-Meei Wu, Anne Y Y Chan, Vincent Mok, Yih-Ru Wu, Barbara C Tilley, Sheng Luo, Lu Wang, Nancy R LaPelle, Glenn T Stebbins, Christopher G Goetz
BACKGROUND: Given the importance of ethnic differences in the evaluation of various aspects of symptoms in patients with Parkinson's disease (PD), we present the formal procedure for completing the traditional Chinese translation of the International and Parkinson and Movement Disorder Society/UPDRS (MDS-UPDRS) and highlight the discrepancy in nonmotor symptoms (NMS) between patients in Eastern and Western countries. METHODS: A total of 350 native Chinese-speaking PD patients were recruited from multiple hospitals in Eastern countries; they completed the MDS-UPDRS...
January 2017: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28344997/simple-derivation-of-spinal-motor-neurons-from-escs-ipscs-using-sendai-virus-vectors
#15
Kazuya Goto, Keiko Imamura, Kenichi Komatsu, Kohnosuke Mitani, Kazuhiro Aiba, Norio Nakatsuji, Makoto Inoue, Akihiro Kawata, Hirofumi Yamashita, Ryosuke Takahashi, Haruhisa Inoue
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal degenerative disorder of motor neurons (MNs). Embryonic stem cells (ESCs)/induced pluripotent stem cells (iPSCs) now help us to understand the pathomechanisms of ALS via disease modeling. Various methods to differentiate ESCs/iPSCs into MNs by the addition of signaling molecules have been reported. However, classical methods require multiple steps, and newer simple methods using the transduction of transcription factors run the risk of genomic integration of the vector genes...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28344816/vibration-upshot-of-operating-mechanical-sewing-machine-an-insight-into-common-peroneal-nerve-conduction-study
#16
Prakash Kumar Yadav, Ram Lochan Yadav, Deepak Sharma, Dev Kumar Shah, Niraj Khatri Sapkota, Dilip Thakur, Nirmala Limbu, Md Nazrul Islam
BACKGROUND: Most of the people associated with tailoring occupation in Nepal are still using mechanical sewing machine as an alternative of new technology for tailoring. Common peroneal nerves of both right and left legs are exposed to strenuous and chronic stress exerted by vibration and paddling of mechanical sewing machine. METHODS: The study included 30 healthy male tailors and 30 healthy male individuals. Anthropometric variables as well as cardio respiratory variables were determined for each subject...
2017: Annals of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/28344656/levodopa-carbidopa-enteral-suspension-in-advanced-parkinson-s-disease-clinical-evidence-and-experience
#17
REVIEW
Johan Virhammar, Dag Nyholm
The duration of action of oral levodopa becomes shorter as Parkinson's disease (PD) progresses. Patients with advanced PD may develop potentially disabling motor fluctuations and abnormal involuntary movement (dyskinesia), which cannot be managed with optimized oral or transdermal PD medications. The progressively worsening symptoms can have a substantial impact on the patient quality of life (QoL). Levodopa-carbidopa intestinal gel (LCIG) is delivered continuously via a percutaneous endoscopic gastrostomy with a jejunal extension (PEG-J)...
March 2017: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/28344566/the-onset-time-of-the-ownership-sensation-in-the-moving-rubber-hand-illusion
#18
Andreas Kalckert, H H Ehrsson
The rubber hand illusion (RHI) is a perceptual illusion whereby a model hand is perceived as part of one's own body. This illusion has been extensively studied, but little is known about the temporal evolution of this perceptual phenomenon, i.e., how long it takes until participants start to experience ownership over the model hand. In the present study, we investigated a version of the rubber hand experiment based on finger movements and measured the average onset time in active and passive movement conditions...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28344463/curcumin-and-piperine-supplementation-and-recovery-following-exercise-induced-muscle-damage-a-randomized-controlled-trial
#19
Barthélémy Delecroix, Abd Elbasset Abaïdia, Cédric Leduc, Brian Dawson, Grégory Dupont
The aim of this study was to analyze the effects of oral consumption of curcumin and piperine in combination on the recovery kinetics after exercise-induced muscle damage. Forty-eight hours before and following exercise-induced muscle damage, ten elite rugby players consumed curcumin and piperine (experimental condition) or placebo. A randomized cross-over design was performed. Concentric and isometric peak torque for the knee extensors, one leg 6 seconds sprint performance on a non-motorized treadmill, counter movement jump performance, blood creatine kinase concentration and muscle soreness were assessed immediately after exercise, then at 24h, 48h and 72h post-exercise...
March 2017: Journal of Sports Science & Medicine
https://www.readbyqxmd.com/read/28344334/the-kif1a-homolog-unc-104-is-important-for-spontaneous-release-postsynaptic-density-maturation-and-perisynaptic-scaffold-organization
#20
Yao V Zhang, Shabab B Hannan, Jeannine V Kern, Doychin T Stanchev, Baran Koç, Thomas R Jahn, Tobias M Rasse
The kinesin-3 family member KIF1A has been shown to be important for experience dependent neuroplasticity. In Drosophila, amorphic mutations in the KIF1A homolog unc-104 disrupt the formation of mature boutons. Disease associated KIF1A mutations have been associated with motor and sensory dysfunctions as well as non-syndromic intellectual disability in humans. A hypomorphic mutation in the forkhead-associated domain of Unc-104, unc-104(bris), impairs active zone maturation resulting in an increased fraction of post-synaptic glutamate receptor fields that lack the active zone scaffolding protein Bruchpilot...
March 27, 2017: Scientific Reports
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