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Functional neurology

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https://www.readbyqxmd.com/read/28821644/calpain-dependent-degradation-of-nucleoporins-contributes-to-motor-neuron-death-in-a-mouse-model-of-chronic-excitotoxicity
#1
Kaori Sugiyama, Tomomi Aida, Masatoshi Nomura, Ryoichi Takayanagi, Hanns U Zeilhofer, Kohichi Tanaka
Glutamate-mediated excitotoxicity induces neuronal death by altering various intracellular signaling pathways and is implicated as a common pathogenic pathway in many neurodegenerative diseases. In the case of motor neuron disease, there is significant evidence to suggest that overactivation of AMPA receptors due to deficiencies in the expression and function of glial glutamate transporter GLT1 and GLAST plays an important role in the mechanisms of neuronal death. However, a causal role for glial glutamate transporter dysfunction in motor neuron death remains unknown...
August 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28821613/the-rir-motif-in-the-scaffold-protein-xrcc1-mediates-a-low-affinity-interaction-with-polynucleotide-kinase-phosphatase-pnkp-during-dna-single-strand-break-repair
#2
Claire Breslin, Rajam S Mani, Mesfin Fanta, Nicolas Hoch, Michael Weinfeld, Keith W Caldecott
The scaffold protein X-ray repair cross-complementing 1 (XRCC1) interacts with multiple enzymes involved in DNA base excision repair and single-strand break repair (SSBR) and is important for genetic integrity and normal neurological function. One of the most important interactions of XRCC1 is that with polynucleotide kinase/phosphatase (PNKP), a dual-function DNA kinase/phosphatase that processes damaged DNA termini and that, if mutated, results in ataxia with oculomotor apraxia 4 (AOA4) and microcephaly with early-onset seizures and developmental delay (MCSZ)...
August 16, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28821511/development-and-validation-of-clinical-prediction-models-for-mortality-functional-outcome-and-cognitive-impairment-after-stroke-a-study-protocol
#3
Marion Fahey, Anthony Rudd, Yannick Béjot, Charles Wolfe, Abdel Douiri
INTRODUCTION: Stroke is a leading cause of adult disability and death worldwide. The neurological impairments associated with stroke prevent patients from performing basic daily activities and have enormous impact on families and caregivers. Practical and accurate tools to assist in predicting outcome after stroke at patient level can provide significant aid for patient management. Furthermore, prediction models of this kind can be useful for clinical research, health economics, policymaking and clinical decision support...
August 18, 2017: BMJ Open
https://www.readbyqxmd.com/read/28820719/central-nervous-system-infection-associated-with-orientia-tsutsugamushi-in-south-korea
#4
Han Sang Lee, Jun-Sang Sunwoo, Seon-Jae Ahn, Jangsup Moon, Jung-Ah Lim, Jin-Sun Jun, Woo-Jin Lee, Soon-Tae Lee, Keun-Hwa Jung, Kyung-Il Park, Ki-Young Jung, Sang Kun Lee, Kon Chu
Orientia tsutsugamushi is a major cause of vector-borne infection in Asia. Prompt recognition and appropriate treatment are crucial because of its potentially fatal complications and lack of response to beta-lactam antibiotics. The present study retrospectively evaluated the clinical characteristics and laboratory findings of 16 patients with scrub typhus-related central nervous system (CNS) infections. Single titers ≥ 1:40 of total serum antibodies against O. tsutsugamushi detected by an indirect immunofluorescent assay were considered as positive results...
July 31, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#5
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28820547/incidence-and-clinical-impact-of-cerebral-lesions-after-the-mitraclip%C3%A3-%C3%A2-procedure
#6
Sebastian Barth, Karsten Hamm, Stefan Fodor, Wilko Reents, Sebastian Kerber, Philipp Halbfass, Martina B Hautmann, Bernhard Schieffer, Hassan Soda
BACKGROUND: Clinically silent brain injury detected with cerebral magnetic resonance imaging (MRI) is well known after various cardiovascular interventions. Thus far, only one study has examined the periprocedural risk of cerebral ischemic events in patients undergoing percutaneous mitral valve reconstruction. The study aim was to examine the incidence and clinical impact of cerebral embolic events in patients undergoing percutaneous mitral valve reconstruction using the MitraClip® system...
March 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28820047/reversal-of-spinal-cord-ischemia-following-endovascular-thoracic-aortic-aneurysm-repair-with-hyperbaric-oxygen-and-therapeutic-hypothermia
#7
Emmanuel Urquieta, Joseph Varon, Peter H Lin
BACKGROUND: Neurological adverse events with spinal cord ischemia (SCI) remain one of the most feared complications in patients undergoing thoracic endovascular aortic repair (TEVAR). These patients can develop irreversible paraplegia with lifelong consequences with physical and psychological agony. CASE PRESENTATION: We herein present a patient who developed SCI with bilateral lower leg paraplegia on the third postoperative day following TEVAR. Spinal catheter was inserted for spinal fluid drainage...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28819614/acute-compartment-syndrome-after-an-olecranon-fracture-in-a-patient-with-mild-hemophilia-b
#8
John M Reynolds, Christy Christophersen, Mary K Mulcahey
INTRODUCTION: Compartment syndrome is a serious condition characterized by compartmental pressures within 20 mmHg of diastolic blood pressure, or clinical signs of pain, paresthesia, pallor, and lack of pulses. Often a surgical intervention is necessary. Increased surveillance for compartment syndrome is important when a patient with a bleeding disorder sustains a traumatic injury. CASE REPORT: We present a case of forearm compartment syndrome in a patient with mild hemophilia B who sustained an olecranon fracture...
March 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28819602/fracture-dislocation-of-shoulder-with-brachial-plexus-palsy-a-case-report-and-review-of-management-options
#9
Sameer Rathore, Srinivas Kasha, Srinivas Yeggana
INTRODUCTION: Injuries causing fracture dislocation of shoulder and brachial plexus palsy are extremely rare. As per authors' knowledge, three part fracture of proximal humerus with shoulder dislocation and brachial plexus palsy has not been reported in the literature. CASE PRESENTATION: A 53 year old female sustained a three part fracture of right proximal humerus along with dislocation of shoulder joint and brachial plexus palsy following a fall from a flight of stairs...
March 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28819512/-spontaneous-bilateral-carotid-cavernous-fistulas-about-a-case-and-review-of-the-literature
#10
Adil Belhachmi
We report a clinical case of spontaneous bilateral carotid-cavernous fistulas. Bilateral pulsatile exophthalmos and symmetric cavernous sinuses detected by CT scan helped to suspect the diagnosis. Arteriography confirmed the diagnosis. The patient underwent embolization with favorable neurologic and ophthalmic evolution. Carotid-cavernous fistula is a rare but severe complication associated with a poor functional (blindness) and vital (meningeal and intracerebral hemorrhage) prognosis. The concomitant use of arteriography and embolization has considerably improved the prognosis...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28819140/enhancement-of-perivascular-spaces-in-7%C3%A2-t-mr-image-using-haar-transform-of-non-local-cubes-and-block-matching-filtering
#11
Yingkun Hou, Sang Hyun Park, Qian Wang, Jun Zhang, Xiaopeng Zong, Weili Lin, Dinggang Shen
Perivascular spaces (PVSs) in brain have a close relationship with typical neurological diseases. The quantitative studies of PVSs are meaningful but usually difficult, due to their thin and weak signals and also background noise in the 7 T brain magnetic resonance images (MRI). To clearly distinguish the PVSs in the 7 T MRI, we propose a novel PVS enhancement method based on the Haar transform of non-local cubes. Specifically, we extract a certain number of cubes from a small neighbor to form a cube group, and then perform Haar transform on each cube group...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819047/unusual-case-of-bilateral-hand-weakness
#12
Sayan Datta, Jeremy Cosgrove, Taimour Alam, Helen L Ford
A 35-year-old man presented with myalgia and bilateral hand weakness, 3 days after the onset of lethargy, fevers and rigours. The hand weakness caused functional impairment including difficulty pressing keys on his mobile phone. On examination, there was mild bilateral hand weakness with normal reflexes. His serum creatine kinase was mildly raised at 503 U/L (24-195), viral PCR throat swab was negative and electromyogram showed subtle myopathic changes in the distal forearm muscles. Nerve conduction studies found no evidence of neuropathy...
August 17, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28818727/neuroprotective-effects-of-plant-polysaccharides-a-review-of-the-mechanisms
#13
REVIEW
Qing-Han Gao, Xueyan Fu, Rui Zhang, Zhisheng Wang, Muzhen Guo
Polysaccharides are an important class of phytochemicals, and many studies have demonstrated their beneficial effects in the context of a number of pathologies including neurological disorders. Numerous studies have indicated that polysaccharides exhibit neuroprotection through a variety of mechanisms. We performed a comprehensive review of the literature to consolidate studies for the period 2010-2016, and assessed the protection mechanisms on brain function of polysaccharide-rich extracts from natural sources...
August 14, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28818672/glutathione-monoethyl-ester-prevents-tdp-43-pathology-in-motor-neuronal-nsc-34%C3%A2-cells
#14
Tong Chen, Bradley J Turner, Philip M Beart, Lucy Sheehan-Hennessy, Chinasom Elekwachi, Hakan Muyderman
Oxidative stress is recognised as central in a range of neurological diseases including Amyotrophic lateral sclerosis (ALS), a disease characterised by fast progressing death of motor neurons in the brain and spinal cord. Cellular pathology includes cytosolic protein aggregates in motor neurons and glia of which potentially cytotoxic hyper-phosphorylated fragments of the Transactive response DNA Binding Protein 43 kDa (TDP-43) constitute a major component. This is closely associated with an additional loss of nuclear TDP-43 expression indicating a "loss of function" mechanism, accelerating motor neuron (MN) loss...
August 14, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28818179/multiple-trauma-and-emergency-room-management
#15
Michael Frink, Philipp Lechler, Florian Debus, Steffen Ruchholtz
BACKGROUND: The care of severely injured patients remains a challenge. Their initial treatment in the emergency room is the essential link between first aid in the field and definitive in-hospital treatment. METHODS: We present important elements of the initial in-hospital care of severely injured patients on the basis of pertinent publications retrieved by a selective search in PubMed and the current German S3 guideline on the care of severely and multiply traumatized patients, which was last updated in 2016...
July 24, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28818147/attention-deficit-hyperactivity-disorder-and-fatal-accidents-in-aviation-medicine
#16
Tanja Laukkala, Robert Bor, Bruce Budowle, Antti Sajantila, Pooshan Navathe, Markku Sainio, Alpo Vuorio
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder with symptoms of inattention and/or hyperactivity-impulsivity that interfere with functioning and/or development. ADHD occurs in about 2.5% of adults. ADHD can be an excluding medical condition among pilots due to the risk of attentional degradation and therefore impact on flight safety. Diagnosis of ADHD is complex, which complicates aeromedical assessment. This study highlights fatal accident cases among pilots with ADHD and discusses protocols to detect its presence to help to assess its importance to flight safety...
September 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28817797/wrapped-to-adapt-experience-dependent-myelination
#17
REVIEW
Christopher W Mount, Michelle Monje
Activity of the nervous system has long been recognized as a critical modulator of brain structure and function. Influences of experience on the cytoarchitecture and functional connectivity of neurons have been appreciated since the classic work of Hubel and Wiesel (1963; Wiesel and Hubel, 1963a, 1963b). In recent years, a similar structural plasticity has come to light for the myelinated infrastructure of the nervous system. While an innate program of myelin development proceeds independently of nervous system activity, increasing evidence supports a role for activity-dependent, plastic changes in myelin-forming cells that influence myelin structure and neurological function...
August 16, 2017: Neuron
https://www.readbyqxmd.com/read/28817693/clinical-signs-profound-acidemia-hypoglycemia-and-hypernatremia-are-predictive-of-mortality-in-1-400-critically-ill-neonatal-calves-with-diarrhea
#18
Florian M Trefz, Ingrid Lorenz, Annette Lorch, Peter D Constable
Profound acidemia impairs cellular and organ function and consequently should be associated with an increased risk of mortality in critically ill humans and animals. Neonatal diarrhea in calves can result in potentially serious metabolic derangements including profound acidemia due to strong ion (metabolic) acidosis, hyper-D-lactatemia, hyper-L-lactatemia, azotemia, hypoglycemia, hyperkalemia and hyponatremia. The aim of this retrospective study was to assess the prognostic relevance of clinical and laboratory findings in 1,400 critically ill neonatal calves with diarrhea admitted to a veterinary teaching hospital...
2017: PloS One
https://www.readbyqxmd.com/read/28817575/mck1-is-a-novel-regulator-of-myo-inositol-phosphate-synthase-mips-that-is-required-for-inhibition-of-inositol-synthesis-by-the-mood-stabilizer-valproate
#19
Wenxi Yu, Joshua Daniel, Dhara Mehta, Krishna Rao Maddipati, Miriam L Greenberg
Myo-inositol, the precursor of all inositol compounds, is essential for the viability of eukaryotes. Identifying the factors that regulate inositol homeostasis is of obvious importance to understanding cell function and the pathologies underlying neurological and metabolic resulting from perturbation of inositol metabolism. The current study identifies Mck1, a GSK3 homolog, as a novel positive regulator of inositol de novo synthesis in yeast. Mck1 was required for normal activity of myo-inositol phosphate synthase (MIPS), which catalyzes the rate-limiting step of inositol synthesis...
2017: PloS One
https://www.readbyqxmd.com/read/28816877/fractures-in-spinal-ankylosing-disorders-a-narrative-review-of-disease-and-injury-types-treatment-techniques-and-outcomes
#20
Tarush Rustagi, Doniel Drazin, Cumhur Oner, Jonathan York, Gregory D Schroeder, Alexander R Vaccaro, Rod J Oskouian, Jens R Chapman
INTRODUCTION: Spinal ankylosing disorders encompass ankylosing spondylitis (AS), disseminated hyperostosis of the spine, and end-stage spondylosis. All these result in a stiffened and frequently deformed spinal column. This makes the spinal column highly susceptible to severe injuries that are commonly associated with unfavorable outcomes. Improved understanding of the underlying disease processes and clinical comorbidities may alter the poor injury related morbidity and mortality outcomes...
September 2017: Journal of Orthopaedic Trauma
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