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https://www.readbyqxmd.com/read/28932395/japanese-wdr45-de-novo-mutation-diagnosed-by-exome-analysis-a-case-report
#1
Hironobu Endo, Takeshi Uenaka, Wataru Satake, Yutaka Suzuki, Hisatsugu Tachibana, Norio Chihara, Takehiro Ueda, Kenji Sekiguchi, Taniguchi-Ikeda Mariko, Hisatomo Kowa, Fumio Kanda, Tatsushi Toda
A 40-year-old Japanese woman presented with slowly progressing parkinsonism in adulthood. She had a history of epilepsy with intellectual disability in childhood. In a head magnetic resonance scan, T2-weighted imaging showed low signal intensity areas in the globus pallidus and the substantia nigra; T1-weighted imaging showed a halo in the nigra. Because the patient's symptoms and history were similar to those of patients with neurodegeneration with brain iron accumulation, we ran an exome analysis to investigate neurodegeneration with brain iron accumulation-associated genes...
July 2017: Neurology and Clinical Neuroscience
https://www.readbyqxmd.com/read/28930284/effects-of-intranasal-oxytocin-on-the-blood-oxygenation-level-dependent-signal-in-food-motivation-and-cognitive-control-pathways-in-overweight-and-obese-men
#2
Franziska Plessow, Dean A Marengi, Sylvia K Perry, Julia M Felicione, Rachel Franklin, Tara M Holmes, Laura M Holsen, Nikolaos Makris, Thilo Deckersbach, Elizabeth A Lawson
Recent research indicates that the hypothalamic neuropeptide hormone oxytocin is a key central nervous system factor in the regulation of food intake and weight. However, the mechanisms underlying the anorexigenic effects of oxytocin in humans are unknown and critical to study in order to consider oxytocin as a neurohormonal weight loss treatment. We performed a randomized, double-blind, placebo-controlled crossover study with single-dose intranasal oxytocin (24 IU) in ten overweight or obese, otherwise healthy men...
September 20, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28918267/compulsivity-in-opioid-dependence
#3
Serenella Tolomeo, Keith Matthews, J Douglas Steele, Alex Baldacchino
OBJECTIVE: This study aimed to investigate the relationship between compulsivity versus impulsivity and structural MRI abnormalities in opioid dependence. METHOD: We recruited 146 participants: i) patients with a history of opioid dependence due to chronic heroin use (n=24), ii) heroin users stabilised on methadone maintenance treatment (n=48), iii) abstinent participants with a history of opioid dependence due to heroin use (n=24) and iv) healthy controls (n=50)...
September 13, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28917282/interventional-mri-guided-deep-brain-stimulation-lead-implantation
#4
REVIEW
Philip S Lee, Robert Mark Richardson
Current knowledge of the functional anatomy of the subthalamic nucleus and globus pallidus, discovered through microelectrode recording and postoperative imaging, justifies purely anatomic targeting for deep brain stimulation (DBS). Interventional MRI (iMRI)-DBS is more anatomically accurate than traditional awake procedures and has similar clinical outcomes without increased risk or increased operative times. iMRI lead implantation allows patients to receive DBS therapy who cannot tolerate or do not agree to undergo an awake procedure...
October 2017: Neurosurgery Clinics of North America
https://www.readbyqxmd.com/read/28916503/altered-serotonergic-and-gabaergic-neurotransmission-in-a-mice-model-of-obsessive-compulsive-disorder
#5
Christine Winter, Dana M Greene, Paraskevi Mavrogiorgou, Helge Schaper, Reinhard Sohr, Abel Bult-Ito, Georg Juckel
There is ample evidence that obsessive-compulsive disorder (OCD) is based on reduced serotonergic function. Replicated bidirectional selection for thermoregulatory nest-building behavior in the laboratory house mouse (Mus musculus) resulted in compulsive-like, non-compulsive-like and randomly bred control mice that represent a non-induced animal model of OCD. The present study aimed at investigating the neurochemical patterns in specific brain regions of compulsive-like (HA) versus non-compulsive-like (LA) and normal (CA) mice...
September 12, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28912231/crystal-clear-memories-of-a-bacterium
#6
Rea Globus, Udi Qimron
No abstract text is available yet for this article.
September 15, 2017: Science
https://www.readbyqxmd.com/read/28904473/surgical-interventions-for-task-specific-dystonia-writer-s-dystonia
#7
Paresh K Doshi, Raghvendra Vijay Ramdasi, Bharati Karkera, Dilraj B Kadlas
OBJECTIVES: Writer's cramp is a focal dystonia producing abnormal postures during selective motor activities. Thalamotomy or globus pallidus internus deep brain stimulation (GPi DBS) has been used as a surgical treatment in patients not responding to medical treatment. MATERIALS AND METHODS: Eight patients (all men, age 16-47 years) with refractory focal hand dystonia underwent either ventrooralis (Vo) thalamotomy (seven patients) or GPi DBS (one patient) using stereotactic techniques...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28902833/rabies-screen-reveals-gpe-control-of-cocaine-triggered-plasticity
#8
Kevin T Beier, Christina K Kim, Paul Hoerbelt, Lin Wai Hung, Boris D Heifets, Katherine E DeLoach, Timothy J Mosca, Sophie Neuner, Karl Deisseroth, Liqun Luo, Robert C Malenka
Identification of neural circuit changes that contribute to behavioural plasticity has routinely been conducted on candidate circuits that were preselected on the basis of previous results. Here we present an unbiased method for identifying experience-triggered circuit-level changes in neuronal ensembles in mice. Using rabies virus monosynaptic tracing, we mapped cocaine-induced global changes in inputs onto neurons in the ventral tegmental area. Cocaine increased rabies-labelled inputs from the globus pallidus externus (GPe), a basal ganglia nucleus not previously known to participate in behavioural plasticity triggered by drugs of abuse...
September 13, 2017: Nature
https://www.readbyqxmd.com/read/28900267/investigating-the-neural-correlates-of-smoking-feasibility-and-results-of-combining-electronic-cigarettes-with-fmri
#9
Matthew B Wall, Alexander Mentink, Georgina Lyons, Oliwia S Kowalczyk, Lysia Demetriou, Rexford D Newbould
Cigarette addiction is driven partly by the physiological effects of nicotine, but also by the distinctive sensory and behavioural aspects of smoking, and understanding the neural effects of such processes is vital. There are many practical difficulties associated with subjects smoking in the modern neuroscientific laboratory environment, however electronic cigarettes obviate many of these issues, and provide a close simulation of smoking tobacco cigarettes. We have examined the neural effects of 'smoking' electronic cigarettes with concurrent functional Magnetic Resonance Imaging (fMRI)...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28891523/sensitivity-analysis-of-discharge-patterns-of-subthalamic-nucleus-in-the-model-of-basal-ganglia-in-parkinson-disease
#10
Jyotsna Singh, Phool Singh, Vikas Malik
Parkinson disease alters the information patterns in movement related pathways in brain. Experimental results performed on rats show that the activity patterns changes from single spike activity to mixed burst mode in Parkinson disease. However the cause of this change in activity pattern is not yet completely understood. Subthalamic nucleus is one of the main nuclei involved in the origin of motor dysfunction in Parkinson disease. In this paper, a single compartment conductance based model is considered which focuses on subthalamic nucleus and synaptic input from globus pallidus (external)...
2017: Journal of Integrative Neuroscience
https://www.readbyqxmd.com/read/28889128/hemorrhage-detection-and-incidence-during-magnetic-resonance-guided-deep-brain-stimulator-implantations
#11
Alastair J Martin, Philip A Starr, Jill L Ostrem, Paul S Larson
BACKGROUND/AIMS: Intraoperative magnetic resonance imaging (iMRI) is increasingly used to implant deep brain stimulator (DBS) electrodes. The approach has the advantages of a high targeting accuracy, minimization of brain penetrations, and allowance of implantation under general anesthesia. The hemorrhagic complications of iMRI-guided DBS implantation have not been studied in a large series. We report on the incidence and characteristics of hemorrhage during these procedures. METHODS: Hemorrhage incidence was assessed in a series of 231 iMRI procedures (374 electrodes implanted)...
September 9, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28886909/quantitative-susceptibility-mapping-differentiates-between-parkinsonian-disorders
#12
Henrik Sjöström, Tobias Granberg, Eric Westman, Per Svenningsson
INTRODUCTION: It is often challenging to clinically distinguish between Parkinson's disease (PD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). Quantitative susceptibility mapping (QSM) is an accurate indirect method for estimating brain iron levels in vivo. This method has yet to be applied in atypical parkinsonism. We aimed to investigate differences in brain iron accumulation parkinsonian disorders and healthy controls using QSM. METHODS: 15 patients with PSP, 11 patients with MSA, 62 patients with PD and 14 healthy controls were included in the study and their phase and magnitude data from susceptibility-weighted magnetic resonance imaging were retrospectively analyzed with an in-house pipeline to create susceptibility maps...
September 1, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28884487/radiofrequency-ablation-in-patients-with-large-cervical-heterotopic-gastric-mucosa-and-globus-sensation-closing-the-treatment-gap
#13
Ivan Kristo, Erwin Rieder, Matthias Paireder, Katrin Schwameis, Gerd Jomrich, Werner Dolak, Thomas Parzefall, Martin Riegler, Reza Asari, Sebastian F Schoppmann
OBJECTIVES: Symptomatic cervical heterotopic gastric mucosa also addressed as cervical inlet patch (CIP) may present in varying shapes and causes symptoms of laryngopharyngeal reflux (LPR) like globus sensations, hoarseness and chronic cough. Unfortunately, argon plasma coagulation, standard treatment of small symptomatic CIP, is limited in large CIP mainly due to concerns of stricture formation. Therefore, we aimed to investigate radiofrequency ablation (RFA), a novel minimal-invasive ablation method, in the treatment of CIP focusing on large symptomatic patches...
September 7, 2017: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
https://www.readbyqxmd.com/read/28881514/-phenotypic-and-genotypic-features-of-twenty-children-with-classic-pantothenate-kinase-associated-neurodegeneration
#14
J Zhou, J He, L P Kou, H C Feng, Y H Deng, Z B Zhang, L Zhou, J M Wang, Y W Jiang, Y Wu
Objective: To explore the phenotypic and genotypic characteristics in Chinese children with classic pantothenate kinase-associated neurodegeneration (PKAN). Method: The clinical, radiographic and genetic data of all PKAN patients diagnosed at pediatric department of Peking University First Hospital from November 2006 to December 2016 were retrospectively collected and analyzed. Result: Twenty patients with classic PKAN were included in the study. The median age at onset was 3.5 years (ranging from 1.0 to 10...
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28881108/altered-oesophageal-mechanosensitivity-of-secondary-peristalsis-as-a-pathophysiological-marker-in-patients-with-globus-sensation
#15
Wei-Yi Lei, Jui-Sheng Hung, Tso-Tsai Liu, Chih-Hsun Yi, Chien-Lin Chen
OBJECTIVE: Secondary peristalsis is important for clearance of retained food bolus and refluxate from the oesophagus. We aimed to investigate whether patients with globus sensation have altered physiological characteristics of secondary peristalsis. DESIGN: Prospective case-controlled study. SETTING: Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan. PARTICIPANTS: 17 globus patients and 18 healthy controls...
September 7, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28879940/isolated-globus-pallidi-hypointensities-in-type-2-gm1-gangliosidoses
#16
Mahesh Kamate, Nishant Mittal
No abstract text is available yet for this article.
September 2017: Neurology India
https://www.readbyqxmd.com/read/28878643/homologous-basal-ganglia-network-models-in-physiological-and-parkinsonian-conditions
#17
Jyotika Bahuguna, Tom Tetzlaff, Arvind Kumar, Jeanette Hellgren Kotaleski, Abigail Morrison
The classical model of basal ganglia has been refined in recent years with discoveries of subpopulations within a nucleus and previously unknown projections. One such discovery is the presence of subpopulations of arkypallidal and prototypical neurons in external globus pallidus, which was previously considered to be a primarily homogeneous nucleus. Developing a computational model of these multiple interconnected nuclei is challenging, because the strengths of the connections are largely unknown. We therefore use a genetic algorithm to search for the unknown connectivity parameters in a firing rate model...
2017: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/28877824/quantifying-the-cerebral-hemodynamic-changes-in-hypertensive-patients-using-3d-pseudo-continuous-arterial-spin-labeling
#18
Ting Wang, Yan-Hua Li, Xin-Hong Guo, Lin Ma, Xin Lou
Objective To investigate the cerebral hemodynamic changes in hypertensive patients using 3D pseudo-continuous arterial spin labeling(3D pCASL).Methods Fifty-eight hypertensive subjects and thirty-four age-matched healthy volunteers were recruited and scanned using the 3D whole-brain pCASL sequence.The regional cerebral blood flow(CBF)values were achieved based on 3D pCASL with SPM8 technique and were manually drawn. Results Compared with healthy volunteers,hypertensive patients had significantly lower CBF values in various regions,with statistical difference at the bilateral centrum semiovale(P=0...
August 20, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/28874119/automated-segmentation-of-cerebral-deep-gray-matter-from-mri-scans-effect-of-field-strength-on-sensitivity-and-reliability
#19
Renxin Chu, Shelley Hurwitz, Shahamat Tauhid, Rohit Bakshi
BACKGROUND: The cerebral subcortical deep gray matter nuclei (DGM) are a common, early, and clinically-relevant site of atrophy in multiple sclerosis (MS). Robust and reliable DGM segmentation could prove useful to evaluate putative neuroprotective MS therapies. The objective of the study was to compare the sensitivity and reliability of DGM volumes obtained from 1.5T vs. 3T MRI. METHODS: Fourteen patients with MS [age (mean, range) 50.2 (32.0-60.8) years, disease duration 18...
September 5, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28873337/thalamic-gaba-levels-and-occupational-manganese-neurotoxicity-association-with-exposure-levels-and-brain-mri
#20
Ruoyun E Ma, Eric J Ward, Chien-Lin Yeh, Sandy Snyder, Zaiyang Long, Fulya Gokalp Yavuz, S Elizabeth Zauber, Ulrike Dydak
Excessive occupational exposure to Manganese (Mn) has been associated with clinical symptoms resembling idiopathic Parkinson's disease (IPD), impairing cognitive and motor functions. Several studies point towards an involvement of the brain neurotransmitter system in Mn intoxication, which is hypothesized to be disturbed prior to onset of symptoms. Edited Magnetic Resonance Spectroscopy (MRS) offers the unique possibility to measure γ-amminobutyric acid (GABA) and other neurometabolites in vivo non-invasively in workers exposed to Mn...
September 2, 2017: Neurotoxicology
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