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https://www.readbyqxmd.com/read/29906300/new-treatment-criteria-for-preterm-hyperbilirubinemic-infants-in-japan
#1
Ichiro Morioka
In 1992, Kobe University proposed treatment criteria for hyperbilirubinemic newborns using total serum bilirubin and serum unbound bilirubin reference values. In the last decade, chronic bilirubin encephalopathy has found to develop in preterm infants in Japan because it can now be clinically diagnosed based on an abnormal signal of the globus pallidus in T2-weighted magnetic resonance imaging and abnormal findings of the auditory brainstem response with or without apparent hearing loss, along with physical findings of kinetic disorders with athetosis...
June 15, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29904367/resting-state-pallidal-cortical-oscillatory-couplings-in-patients-with-predominant-phasic-and-tonic-dystonia
#2
Fusako Yokochi, Kenji Kato, Hirokazu Iwamuro, Tsutomu Kamiyama, Katsuo Kimura, Akihiro Yugeta, Ryoichi Okiyama, Makoto Taniguchi, Satoko Kumada, Junichi Ushiba
Pallidal deep brain stimulation (DBS) improves the symptoms of dystonia. The improvement processes of dystonic movements (phasic symptoms) and tonic symptoms differ. Phasic symptoms improve rapidly after starting DBS treatment, but tonic symptoms improve gradually. This difference implies distinct neuronal mechanisms for phasic and tonic symptoms in the underlying cortico-basal ganglia neuronal network. Phasic symptoms are related to the pallido-thalamo-cortical pathway. The pathway related to tonic symptoms has been assumed to be different from that for phasic symptoms...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29899725/long-term-effect-of-gpi-dbs-in-a-patient-with-generalized-dystonia-due-to-glut1-deficiency-syndrome
#3
Idil Hanci, Christoph Kamm, Marlieke Scholten, Lorenzo P Roncoroni, Yvonne Weber, Rejko Krüger, Christian Plewnia, Alireza Gharabaghi, Daniel Weiss
Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS) at age 44...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29894887/developmental-variation-in-regional-brain-iron-and-its-relation-to-cognitive-functions-in-childhood
#4
Jasmine L Hect, Ana M Daugherty, Klodia M Hermez, Moriah E Thomason
Non-heme iron is a vital metabolic cofactor for many core processes of brain development including myelination, dendritogenesis, and neurotransmitter synthesis, and accumulates in the brain with age. However, little is known about development-related differences in brain iron and its association with emerging cognitive abilities during formative years. In this study, we estimated brain iron via R2* relaxometry in children ages 7-16 (N = 57; 38 females) and examined its relation to age-related differences in cognitive ability...
May 22, 2018: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/29887684/b-l-basal-ganglia-lesions-in-a-child-leading-to-a-diagnosis-of-glucose-6-phosphate-dehydrogenase-deficiency
#5
Nidhi Prabhakar, Chirag K Ahuja, Niranjan Khandelwal
Bilateral basal ganglia lesions are a common non-specific finding seen in many diseases. One of the differential diagnoses for it, in a child, is kernicterus occurring due to hyperbilirubinemia. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common cause of severe hyperbilirubinemia. A 1-year old child presented to the hospital with history of generalized dystonia in the previous 3 days. MRI showed evidence of symmetrical lesions in bilateral globus pallidus, which were hyperintense on T2/FLAIR and isointense on T1...
April 2018: Annals of Neurosciences
https://www.readbyqxmd.com/read/29886807/model-and-analysis-for-the-onset-of-parkinsonian-firing-patterns-in-a-simplified-basal-ganglia
#6
Michael Caiola, Mark H Holmes
Parkinson's disease (PD) is a degenerative neurological disease that disrupts the movement cycle in the basal ganglia. As the disease progresses, dopamine depletion leads to changes to how the basal ganglia functions as well as the appearance of abnormal beta oscillations. There is much debate on just exactly how these connection strengths change and just how the oscillations emerge. One leading hypothesis claims that the oscillations develop in the globus pallidus external, subthalamic nucleus, and globus pallidus internal loop...
May 3, 2018: International Journal of Neural Systems
https://www.readbyqxmd.com/read/29882456/absence-of-axoglial-paranodal-junctions-in-a-child-with-cntnap1-mutations-hypomyelination-and-arthrogryposis
#7
Alexander Conant, Julian Curiel, Amy Pizzino, Parisa Sabetrasekh, Jennifer Murphy, Miriam Bloom, Sarah H Evans, Guy Helman, Ryan J Taft, Cas Simons, Matthew T Whitehead, Steven A Moore, Adeline Vanderver
Leukodystrophies and genetic leukoencephalopathies are a heterogeneous group of heritable disorders that affect the glial-axonal unit. As more patients with unsolved leukodystrophies and genetic leukoencephalopathies undergo next generation sequencing, causative mutations in genes leading to central hypomyelination are being identified. Two such individuals presented with arthrogryposis multiplex congenita, congenital hypomyelinating neuropathy, and central hypomyelination with early respiratory failure. Whole exome sequencing identified biallelic mutations in the CNTNAP1 gene: homozygous c...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29872212/subcortical-structural-connectivity-of-insular-subregions
#8
Jimmy Ghaziri, Alan Tucholka, Gabriel Girard, Olivier Boucher, Jean-Christophe Houde, Maxime Descoteaux, Sami Obaid, Guillaume Gilbert, Isabelle Rouleau, Dang Khoa Nguyen
Hidden beneath the Sylvian fissure and sometimes considered as the fifth lobe of the brain, the insula plays a multi-modal role from its strategic location. Previous structural studies have reported cortico-cortical connections with the frontal, temporal, parietal and occipital lobes, but only a few have looked at its connections with subcortical structures. The insular cortex plays a role in a wide range of functions including processing of visceral and somatosensory inputs, olfaction, audition, language, motivation, craving, addiction and emotions such as pain, empathy and disgust...
June 5, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29868452/changes-of-deep-gray-matter-magnetic-susceptibility-over-2-years-in-multiple-sclerosis-and-healthy-control-brain
#9
Jesper Hagemeier, Robert Zivadinov, Michael G Dwyer, Paul Polak, Niels Bergsland, Bianca Weinstock-Guttman, Joshua Zalis, Andreas Deistung, Jürgen R Reichenbach, Ferdinand Schweser
In multiple sclerosis, pathological changes of both tissue iron and myelin occur, yet these factors have not been characterized in a longitudinal fashion using the novel iron- and myelin-sensitive quantitative susceptibility mapping (QSM) MRI technique. We investigated disease-relevant tissue changes associated with myelin loss and iron accumulation in multiple sclerosis deep gray matter (DGM) over two years. One-hundred twenty (120) multiple sclerosis patients and 40 age- and sex-matched healthy controls were included in this prospective study...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29868443/dynamic-causal-modeling-revealed-dysfunctional-effective-connectivity-in-both-the-cortico-basal-ganglia-and-the-cerebello-cortical-motor-network-in-writers-cramp
#10
Inken Rothkirch, Oliver Granert, Arne Knutzen, Stephan Wolff, Felix Gövert, Anya Pedersen, Kirsten E Zeuner, Karsten Witt
Writer's cramp (WC) is a focal task-specific dystonia characterized by sustained or intermittent muscle contractions while writing, particularly with the dominant hand. Since structural lesions rarely cause WC, it has been assumed that the disease might be caused by a functional maladaptation within the sensory-motor system. Therefore, our objective was to examine the differences between patients suffering from WC and a healthy control (HC) group with regard to the effective connectivity that describes causal influences one brain region exerts over another within the motor network...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29867753/lack-of-association-between-shape-and-volume-of-subcortical-brain-structures-and-restless-legs-syndrome
#11
Marco Hermesdorf, Benedikt Sundermann, Rajesh Rawal, András Szentkirályi, Udo Dannlowski, Klaus Berger
Objective: Previous studies on patients with restless legs syndrome (RLS) yielded inconclusive results in the magnetic resonance imaging (MRI)-based analyses of alterations of subcortical structures in the brain. The aim of this study was to compare volumes as well as shapes of subcortical structures and the hippocampus between RLS cases and controls. Additionally, the associations between the genetic risks for RLS and subcortical volumes were investigated. Methods: We compared volumetric as well as shape differences assessed by 3 T MRI in the caudate nucleus, hippocampus, globus pallidus, putamen, and thalamus in 39 RLS cases versus 117 controls, nested within a population-based sample...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29867332/a-fully-automated-subcortical-and-ventricular-shape-generation-pipeline-preserving-smoothness-and-anatomical-topology
#12
Xiaoying Tang, Yuan Luo, Zhibin Chen, Nianwei Huang, Hans J Johnson, Jane S Paulsen, Michael I Miller
In this paper, we present a fully-automated subcortical and ventricular shape generation pipeline that acts on structural magnetic resonance images (MRIs) of the human brain. Principally, the proposed pipeline consists of three steps: (1) automated structure segmentation using the diffeomorphic multi-atlas likelihood-fusion algorithm; (2) study-specific shape template creation based on the Delaunay triangulation; (3) deformation-based shape filtering using the large deformation diffeomorphic metric mapping for surfaces...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29865069/quantitative-susceptibility-mapping-of-amyloid-%C3%AE-aggregates-in-alzheimer-s-disease-with-7t-mr
#13
Solveig Tiepolt, Andreas Schäfer, Michael Rullmann, Elisabeth Roggenhofer, Hermann-Josef Gertz, Matthias L Schroeter, Marianne Patt, Pierre-Louis Bazin, Thies H Jochimsen, Robert Turner, Osama Sabri, Henryk Barthel
BACKGROUND: PET imaging is an established technique to detect cerebral amyloid-β (Aβ) plaques in vivo. Some preclinical and postmortem data report an accumulation of redox-active iron near Aβ plaques. Quantitative susceptibility mapping (QSM) at high-field MRI enables iron deposits to be depicted with high spatial resolution. OBJECTIVE: Aim of this study was to examine whether iron and Aβ plaque accumulation is related and thus, whether 7T MRI might be an additive diagnostic tool to Aβ PET imaging...
May 28, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29859652/pla2g6-associated-neurodegeneration-lessons-from-neurophysiological-findings
#14
Cyril Gitiaux, Anna Kaminska, Nathalie Boddaert, Giulia Barcia, Sophie Guéden, Sylvie Nguyen The Tich, Pascale De Lonlay, Susana Quijano-Roy, Marie Hully, Yann Péréon, Isabelle Desguerre
BACKGROUND AND AIMS: Phospholipase A2 associated neurodegeneration (PLAN) is a heterogeneous autosomal recessive disorder caused by mutations in the ubiquitously expressed PLA2G6 gene. It is responsible for delayed brain iron accumulation and induces progressive psychomotor regression. We report the concomitant clinical, radiological and neurophysiological findings in PLAN patients in an attempt to determine the contribution of each test to guide diagnosis. METHODS: Concomitant clinical, radiological, electroencephalographic (EEG) and electrodiagnostic testing (EDX) findings in a series of 8 consecutive genetically confirmed PLAN patients were collected...
May 22, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29857863/does-renal-function-affect-gadolinium-deposition-in-the-brain
#15
Feride Kural Rahatli, Fuldem Yildirim Donmez, Seda Kibaroglu, Cagri Kesim, Kemal Murat Haberal, Hale Turnaoglu, Ahmet Muhtesem Agildere
OBJECTIVE: Was to compare T1 signal intensity ratios of dentate nucleus to cerebellar white matter (DN/cerebellum), dentate nucleus to pons (DN/pons) and globus pallidus to thalamus (GP/thalamus) in patients with normal renal function and in patients on chronic hemodialysis. To find out if renal function affects the deposition of gadolinium in brain after administration of linear gadolinium based contrast agents (GBCA). METHODS: Seventy eight contrast enhanced brain MRIs (Magnetic Resonance Imaging) with linear GBCA of 13 patients on chronic hemodialysis and 13 patients with normal renal function retrospectively evaluated...
July 2018: European Journal of Radiology
https://www.readbyqxmd.com/read/29845869/short-term-development-and-fate-of-mge-like-neural-progenitor-cells-in-jaundiced-and-non-jaundiced-rat-brain
#16
Fu-Chen Yang, Julia Draper, Peter G Smith, Jay L Vivian, Steven M Shapiro, John A Stanford
Neonatal hyperbilirubinemia targets specific brain regions and can lead to kernicterus. One of the most debilitating symptoms of kernicterus is dystonia, which results from bilirubin toxicity to the globus pallidus (GP). Stem cell transplantation into the GP to replace lost neurons and restore basal ganglia circuits function is a potential therapeutic strategy to treat dystonia in kernicterus. In this study we transplanted human medial ganglionic eminence (MGE)-like neural progenitor cells (NPCs) that we differentiated into a primarily gamma-aminobutyric acid (GABA)ergic phenotype, into the GP of non-immunosuppressed jaundiced (jj) and non-jaundiced (Nj) rats...
January 1, 2018: Cell Transplantation
https://www.readbyqxmd.com/read/29844889/pantothenate-kinase-associated-neurodegeneration-clinical-aspects-diagnosis-and-treatments
#17
Saeed Razmeh, Amir Hassan Habibi, Maryam Orooji, Elham Alizadeh, Karim Moradiankokhdan, Behroz Razmeh
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is an autosomal recessive disorder characterized by a mutation in the PANK 2 gene. The clinical presentation may range from only speech disorder to severe generalized dystonia, spasticity, Visual loss, dysphagia and dementia. The hallmark of this disease is eyes of the tiger sign in the medial aspect of bilateral globus pallidus on T2-weighted MRI that is a hyperintense lesion surrounded by hypointensity. Common treatments for PKAN disease include anticholinergics, botulinum toxin, Oral and Intrathecal baclofen, Iron chelation drugs and surgical procedures such as ablative pallidotomy or thalamotomy, Deep brain stimulation...
March 30, 2018: Neurology International
https://www.readbyqxmd.com/read/29807200/the-impact-of-deep-brain-stimulation-on-health-related-quality-of-life-and-disease-specific-disability-in-meige-syndrome-ms
#18
REVIEW
Ana Aires, Tiago Gomes, Paulo Linhares, Filipe Cunha, Maria José Rosas, Rui Vaz
Meige Syndrome (MS) is a disabling movement disorder which impairs daily routines such as eating and speaking and, when not responsive to best medical treatment, deep brain stimulation (DBS) of the globus pallidus interna (GPi) has been considered. Previous evidence has shown a significant improvement in motor dysfunction with DBS, however its benefit on disease-specific disability and quality of life has not been thoroughly studied. We describe two patients with severe MS submitted to GPi-DBS. Patient improvement was assessed preoperatively and 24 months after the surgery by applying the movement subscore of the Burke-Fahn-Marsden Dystonia Rating Scale (BFMRS) and Jankovic Rating Scale (JRS) for motor function and the BFMRS disability subscore and Blepharospasm Disability Scale (BDS) for disability...
May 25, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29802103/learning-from-claims-hyperbilirubinaemia-and-kernicterus
#19
Janet M Rennie, Jeanette Beer, Michele Upton
We examined claims made against the National Health Service (NHS) involving neonatal jaundice in order to determine whether there were lessons that could be learnt from common themes.This was a retrospective anonymised study using information from the NHS Resolution database for 2001-2011.Twenty cases (16 males) had sufficient information for analysis. Fifteen had confirmed cerebral palsy and two young children had damage to the globus pallidus without confirmed CP. In three cases, the outcome was uncertain...
May 25, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29801987/neuropsychological-consequences-of-pallidal-deep-brain-stimulation-altering-brain-networks
#20
Ryoong Huh, In-Uk Song, Moonyoung Chung
The purpose of this study was to evaluate postoperative changes in the neuropsychological function of cervical dystonia patients who had undergone deep brain stimulation (DBS) of the internal segment of the globus pallidus (GPi) and to investigate how DBS affects neuropsychological function by altering the neural networks of the brain. In 12 cervical dystonia patients, the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) was used to measure the preoperative and postoperative status of cervical dystonia, and the Seoul Neuropsychological Screening Battery was used to gather neuropsychological data...
May 22, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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