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https://www.readbyqxmd.com/read/28437535/clinical-aspects-of-glucose-transporter-type-1-deficiency-information-from-a-global-registry
#1
Jian Hao, Dorothy I Kelly, Jianzhong Su, Juan M Pascual
Importance: Case reports regularly document unique or unusual aspects of glucose transporter type 1 deficiency (G1D). In contrast, population studies from which to draw global inferences are lacking. Twenty-five years after the earliest case reports, this deficiency still particularly affects treatment and prognostic counseling. Objective: To examine the most common features of G1D. Design, Setting, and Participants: In this study, data were collected electronically from 181 patients with G1D through a web-based, worldwide patient registry from December 1, 2013, through December 1, 2016...
April 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28437187/synergy-between-choroid-plexus-epithelial-cells-conditioned-medium-and-knockout-serum-replacement-converts-human-adipose-derived-stem-cells-to-dopamine-secreting-neurons
#2
Mahdi Eskandarian Boroujeni, Mossa Gardaneh, Mehrnoosh Hasan Shahriari, Abbas Aliaghaei, Sanaz Hasani
Human adipose-derived stem cells (hADSCs) have great capacity to differentiate into mesodermal origins as well as non-mesodermal lineages including neural cells. This valuable feature paves the way for the therapeutic application of hADSCs for neurodegenerative maladies such as Parkinson's disease (PD). We tested the capacity of Choroid Plexus epithelial cells-conditioned medium (CPEC-CM) alone or cocktailed with knock-out serum (KS) to induce dopaminergic differentiation of hADSCs. To this end, hADSCs from lipoaspirate were phenotypically characterized and shown to maintain mesodermal multipotency so selected media easily differentiated them into osteoblasts, chondrocytes and adipocytes...
March 2, 2017: Rejuvenation Research
https://www.readbyqxmd.com/read/28436889/design-and-implementation-of-a-tactile-stimulation-device-to-increase-auditory-discrimination
#3
Shahrzad Abbasi Baharanchi, Majid MohammadBeigi, Fatemeh Abnavi, Samira Tavakol
Reading is a complex process that requires various simultaneous brain processes. One of the most common types of reading disorders is developmental dyslexia, and one of the objectives of speech therapy sessions for children with developmental dyslexia is to increase their auditory discrimination. One of the most commonly used Auditory Discrimination Tests (ADTs) is Wepman's Auditory Discrimination Test (WADT). It includes minimal pair words categorized by characteristics of vowels and consonants. The goal of this research is to design and implement a tactile stimulation device based on Wepman's test to increase auditory discrimination in children with developmental dyslexia in therapy sessions, so that while playing each word for the children, vibrational cues are presented to their left palm and fingers...
April 24, 2017: IEEE Transactions on Haptics
https://www.readbyqxmd.com/read/28436705/pharmacologically-increasing-collateral-perfusion-during-acute-stroke-using-a-carboxyhemoglobin-gas-transfer-agent-sanguinate%C3%A2-in-spontaneously-hypertensive-rats
#4
Marilyn J Cipolla, Italo Linfante, Abe Abuchowski, Ronald Jubin, Siu-Lung Chan
Similar to patients with chronic hypertension, spontaneously hypertensive rats (SHR) develop fast core progression during middle cerebral artery occlusion (MCAO) resulting in large final infarct volumes. We investigated the effect of Sanguinate™ (SG), a PEGylated carboxyhemoglobin (COHb) gas transfer agent, on changes in collateral and reperfusion cerebral blood flow and brain injury in SHR during 2 h of MCAO. SG (8 mL/kg) or vehicle ( n = 6-8/group) was infused i.v. after 30 or 90 min of ischemia with 2 h reperfusion...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28436445/cortical-thickness-and-subcortical-gray-matter-volume-in-pediatric-anxiety-disorders
#5
Andrea L Gold, Elizabeth R Steuber, Lauren K White, Jennifer Pacheco, Jessica F Sachs, David Pagliaccio, Erin Berman, Ellen Leibenluft, Daniel S Pine
Perturbations in the prefrontal cortex (PFC), hippocampus, and amygdala are implicated in the development of anxiety disorders. However, most structural neuroimaging studies of patients with anxiety disorders utilize adult samples, and the few studies in youths examine small samples, primarily with volume-based measures. This study tested the hypothesis that cortical thickness of PFC regions and gray matter volume of the hippocampus and amygdala differ between pediatric anxiety disorder patients and healthy volunteers (HVs)...
April 24, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28436106/therapeutic-plasma-exchange-as-part-of-multimodal-treatment-of-acquired-hemophilia-in-a-patient-with-concurrent-acute-intracerebral-bleed-and-pulmonary-embolism
#6
Geoffrey D Wool, David Chapel, Angela Treml, Jonathan L Miller
BACKGROUND: Autoantibodies against Factor VIII (FVIII) define the rare but life-threatening bleeding disorder acquired hemophilia A (AHA). Correction of FVIII deficiency and eradication of the factor inhibitor are the ultimate therapeutic goals in this disorder. Bypassing agents such as recombinant factor VIIa (rFVIIa) or FVIII inhibitor bypassing agent are often used to control coagulopathy before the inhibitor is eradicated. Bypassing agents carry a risk of thrombosis, however. CASE REPORT: We report a patient with newly diagnosed AHA and thalamic bleed who additionally had active atrial fibrillation and developed a segmental pulmonary embolism, limiting tolerable rFVIIa dosage...
April 24, 2017: Transfusion
https://www.readbyqxmd.com/read/28435465/hypertension-cerebrovascular-impairment-and-cognitive-decline-in-aged-a%C3%AE-pp-ps1-mice
#7
Maximilian Wiesmann, Valerio Zerbi, Diane Jansen, Dieter Lütjohann, Andor Veltien, Arend Heerschap, Amanda J Kiliaan
Cardiovascular risk factors, especially hypertension, are also major risk factors for Alzheimer's disease (AD). To elucidate the underlying vascular origin of neurodegenerative processes in AD, we investigated the relation between systolic blood pressure (SBP) cerebral blood flow (CBF) and vasoreactivity with brain structure and function in a 16-18 months old double transgenic AβPPswe/PS1dE9 (AβPP/PS1) mouse model for AD. These aging AβPP/PS1 mice showed an increased SBP linked to a declined regional CBF...
2017: Theranostics
https://www.readbyqxmd.com/read/28434806/fibronectin-adherent-peripheral-blood-derived-mononuclear-cells-as-paclitaxel-carriers-for-glioblastoma-treatment-an-in-vitro-study
#8
Marco Paolo Schiariti, Francesco Restelli, Paolo Ferroli, Anna Benetti, Angiola Berenzi, Anna Ferri, Valentina Ceserani, Emilio Ciusani, Moris Cadei, Gaetano Finocchiaro, Augusto Pessina, Eugenio Parati, Roberto Pallini, Giulio Alessandri
BACKGROUND: Glioblastoma (GBM) represents the most aggressive malignant brain tumor in adults, with a risible median life expectancy despite gold standard treatment. Novel drug-delivery methods have been explored. Here we evaluated the possibility to use mononuclear cells (MCs) belonging to the monocytic-dendritic lineage as drug-carrier. METHODS: MCs were obtained from 10 patients harboring a GBM, and from healthy volunteers, considered as controls. GBM tissue was also obtained from patients...
April 20, 2017: Cytotherapy
https://www.readbyqxmd.com/read/28434655/apolipoprotein-e-receptors-and-modulation-of-alzheimer-s-disease
#9
REVIEW
Na Zhao, Chia-Chen Liu, Wenhui Qiao, Guojun Bu
Apolipoprotein E (apoE) is a lipid carrier in both the peripheral and the central nervous systems. Lipid-loaded apoE lipoprotein particles bind to several cell surface receptors to support membrane homeostasis and injury repair in the brain. Considering prevalence and relative risk magnitude, the ε4 allele of the APOE gene is the strongest genetic risk factor for late-onset Alzheimer's disease (AD). ApoE4 contributes to AD pathogenesis by modulating multiple pathways, including but not limited to the metabolism, aggregation, and toxicity of amyloid-β peptide, tauopathy, synaptic plasticity, lipid transport, glucose metabolism, mitochondrial function, vascular integrity, and neuroinflammation...
March 14, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28434583/a-proposal-for-new-neurorehabilitative-intervention-on-moebius-syndrome-patients-after-smile-surgery-proof-of-concept-based-on-mirror-neuron-system-properties-and-hand-mouth-synergistic-activity
#10
REVIEW
Pier Francesco Ferrari, Anna Barbot, Bernardo Bianchi, Andrea Ferri, Gioacchino Garofalo, Nicola Bruno, Gino Coudé, Chiara Bertolini, Martina Ardizzi, Ylenia Nicolini, Mauro Belluardo, Elisa De Stefani
Studies of the last twenty years on the motor and premotor cortices of primates demonstrated that the motor system is involved in the control and initiation of movements, and in higher cognitive processes, such as action understanding, imitation, and empathy. Mirror neurons are only one example of such theoretical shift. Their properties demonstrate that motor and sensory processing are coupled in the brain. Such knowledge has been also central for designing new neurorehabilitative therapies for patients suffering from brain injuries and consequent motor deficits...
May 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28434268/ubiquitin-c-terminal-hydrolase-l1-uch-l1-as-a-therapeutic-and-diagnostic-target-in-neurodegeneration-neurotrauma-and-neuro-injuries
#11
Kevin K Wang, Zhihui Yang, George Sarkis, Isabel Torres, Vijaya Raghavan
Since its discovery as a major CNS-abundant protein 25 years ago, Ubiquitin C-terminal hydrolase-L1 (UCH-L1) has emerged as an important enzyme in regulating brain protein metabolism, by coupling to the proteasome pathway of protein degradation. Areas covered: UCH-L1 is implicated in both familial and sporadic Parkinson disease and other chronic neurodegenerative diseases. Also, UCH-L1 has been recently emerging as a biofluid-based biomarker for various forms of acute neurotrauma and CNS injury. Expert opinion: The loss of UCH-L1 activity coupled with the gain of proteinopathy function are linked to neurodegeneration such as Parkinsonism and Alzheimer's disease...
April 24, 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28434110/the-risk-of-radiation-necrosis-following-stereotactic-radiosurgery-with-concurrent-systemic-therapies
#12
Joseph M Kim, Jacob A Miller, Rupesh Kotecha, Roy Xiao, Aditya Juloori, Matthew C Ward, Manmeet S Ahluwalia, Alireza M Mohammadi, David M Peereboom, Erin S Murphy, John H Suh, Gene H Barnett, Michael A Vogelbaum, Lilyana Angelov, Glen H Stevens, Samuel T Chao
To investigate late toxicity among patients with newly-diagnosed brain metastases undergoing stereotactic radiosurgery (SRS) with concurrent systemic therapies with or without whole-brain radiation therapy (WBRT). Patients with newly-diagnosed brain metastasis who underwent SRS at a single tertiary-care institution from 1997 to 2015 were eligible for inclusion. The class and timing of all systemic therapies were collected for each patient. The primary outcome was the cumulative incidence of radiographic radiation necrosis (RN)...
April 22, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28434043/early-whole-brain-radiotherapy-in-primary-cns-lymphoma-negative-impact-on-quality-of-life-in-the-randomized-g-pcnsl-sg1-trial
#13
Ulrich Herrlinger, Niklas Schäfer, Rolf Fimmers, Frank Griesinger, Michael Rauch, Heinz Kirchen, Patrick Roth, Martin Glas, Michael Bamberg, Peter Martus, Eckhard Thiel, Agnieszka Korfel, Michael Weller
PURPOSE: In the randomized G-PCNSL-SG-1 trial, the addition of whole brain radiotherapy (45 Gy) to high-dose methotrexate (HD-MTX)-based chemotherapy (early WBRT arm) did not prolong overall survival (OS) as compared to HD-MTX-based chemotherapy alone (no early WBRT arm) in primary CNS lymphoma (PCNSL) patients. To determine whether WBRT might lead to quality of life (QoL)-relevant late neurotoxicity, this trial prospectively monitored QoL. METHODS: QoL measurements were performed using the EORTC-QLQ-C30 and BN20 questionnaires and combined with repeated Mini Mental State Examinations (MMSE)...
April 22, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28434009/hypoxic-ischaemic-encephalopathy-and-the-blood-brain-barrier-in-neonates
#14
Wei Ling Amelia Lee, Adina T Michael-Titus, Divyen K Shah
This review aims to highlight a possible relationship between hypoxic-ischaemic encephalopathy (HIE) and the disruption of the blood-brain barrier (BBB). Inflammatory reactions perpetuate a large proportion of cerebral injury. The extent of injury noted in HIE is not only determined by the biochemical cascades that trigger the apoptosis-necrosis continuum of cell death in the brain parenchyma, but also by the breaching of the BBB by pro-inflammatory factors. We examine the changes that contribute to the breakdown of the BBB that occur during HIE at a macroscopic, cellular, and molecular level...
April 22, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28434004/what-do-medical-students-know-about-deep-brain-stimulation
#15
Andreas Wloch, Assel Saryyeva, Hans E Heissler, Christoph Schrader, H Holger Capelle, Joachim K Krauss
BACKGROUND: Deep brain stimulation (DBS) is an established therapy for movement disorders. It is currently under investigation in neuropsychiatric disorders. Neurophobia is a common phenomenon that might have a negative impact in medical education. Little is known about medical students' knowledge about DBS when they enter university and what they learn about it during their medical formation. METHODS: A 10-item questionnaire was designed. Questions addressed indications for DBS, costs of DBS, complications, the percentage of Parkinson disease (PD) patients who might profit from DBS, etc...
April 22, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28433855/the-electrophysiology-of-neurohiv-a-systematic-review-of-eeg-and-meg-studies-in-people-with-hiv-infection-since-the-advent-of-highly-active-antiretroviral-therapy
#16
Ana Lucia Fernández-Cruz, Lesley K Fellows
OBJECTIVE: The Human Immunodeficiency Virus (HIV) has an impact on the brain, even when the infection is well-controlled with modern highly-active antiretroviral therapy (HAART). While dementia is rare in those on HAART, milder cognitive impairment is common. The causes, patterns, and evolution of brain dysfunction in people living with HIV remain uncertain. We evaluate whether electrophysiological methods provide informative measures of brain dysfunction in this population. METHODS: A systematic literature search identified studies that used EEG or MEG to evaluate persons living with HIV published between 1996 (when HAART became available) and 2016...
March 31, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28433417/mechanistic-insights-into-epigenetic-modulation-of-ethanol-consumption
#17
Igor Ponomarev, Claire E Stelly, Hitoshi Morikawa, Yuri A Blednov, R Dayne Mayfield, R Adron Harris
There is growing evidence that small-molecule inhibitors of epigenetic modulators, such as histone deacetylases (HDAC) and DNA methyltransferases (DNMT), can reduce voluntary ethanol consumption in animal models, but molecular and cellular processes underlying this behavioral effect are poorly understood. We used C57BL/6J male mice to investigate the effects of two FDA-approved drugs, decitabine (a DNMT inhibitor) and SAHA (an HDAC inhibitor), on ethanol consumption using two tests: binge-like drinking in the dark (DID) and chronic intermittent every other day (EOD) drinking...
March 12, 2017: Alcohol
https://www.readbyqxmd.com/read/28433114/hepatic-features-of-wilson-disease
#18
Salih Boga, Aftab Ala, Michael L Schilsky
In Wilson disease (WD) defective AT7B function leads to biliary copper excretion and pathologic copper accumulation, particularly in liver and brain, where it induces cellular damage. Liver disease most often precedes neurologic or psychiatric manifestations. In most patients with neurologic or psychiatric symptoms there is some degree of liver disease at the time of disease presentation. Hepatic manifestations of WD can be extremely variable. Patients with clinically asymptomatic WD are often found by family screening or identified on routine laboratory testing...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433110/animal-models-of-wilson-disease
#19
Valentina Medici, Dominik Huster
Wilson disease (WD) is caused by ATPase copper-transporting beta (ATP7B) mutations and results in copper toxicity in liver and brain. Although the defective gene was identified in 1993, the specific mechanisms underlying copper toxicity and the remarkable phenotypic diversity of the disease are still poorly understood. Animal models harboring defects in the ATP7B homolog have helped to reveal new insights into pathomechanisms of WD. Four rodent models with ATP7B gene defects have been described - the Long-Evans Cinnamon (LEC) rat, inbred mouse models (toxic milk (tx), the Jackson Laboratory toxic milk (tx-j)), and the genetically engineered ATP7B(-/-) (knockout) mouse - all of which develop liver disease to different extents...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28432360/functional-ectopic-neuritogenesis-by-retinal-rod-bipolar-cells-is-regulated-by-mir-125b-5p-during-retinal-remodeling-in-rcs-rats
#20
Yan Fu, Baoke Hou, Chuanhuang Weng, Weiping Liu, Jiaman Dai, Congjian Zhao, Zheng Qin Yin
Following retinal degeneration, retinal remodeling can cause neuronal microcircuits to undergo structural alterations, which particularly affect the dendrites of bipolar cells. However, the mechanisms and functional consequences of such changes remain unclear. Here, we used Royal College of Surgeon (RCS) rats as a model of retinal degeneration, to study structural changes in rod bipolar cells (RBCs) and the underlying mechanisms of these changes. We found that, with retinal degeneration, RBC dendrites extended into the outer nuclear layer (ONL) of the retina, and the ectopic dendrites formed synapses with the remaining photoreceptors...
April 21, 2017: Scientific Reports
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