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https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#1
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28090678/the-epileptic-and-nonepileptic-spectrum-of-paroxysmal-dyskinesias-channelopathies-synaptopathies-and-transportopathies
#2
REVIEW
Roberto Erro, Kailash P Bhatia, Alberto J Espay, Pasquale Striano
Historically, the syndrome of primary paroxysmal dyskinesias was considered a group of disorders as a result of ion channel dysfunction. This proposition was primarily based on the discovery of mutations in ion channels, which caused other episodic neurological disorders such as epilepsy and migraine and also supported by the frequent association between paroxysmal dyskinesias and epilepsy. However, the discovery of the genes responsible for the 3 classic forms of paroxysmal dyskinesias disproved this ion channel theory...
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28087595/is-epicardial-fat-depot-associated-with-atrial-fibrillation-a-systematic-review-and-meta-analysis
#3
Maddalena Gaeta, Francesco Bandera, Federico Tassinari, Capasso Lorenzo, Miriam Cargnelutti, Gabriele Pelissero, Alexis Elias Malavazos, Cristian Ricci
AIMS: Atrial fibrillation (AF) is the leading rhythm disorder in western countries. A direct relationship between left atrium (LA) enlargement and electromechanical remodelling has been established. A causative link between epicardial fat (EF), visceral adipose tissue deposited around the heart, and AF has been hypothesized. Several reports suggested the association between EF and the presence of AF. The aim of this study was to verify the relationship between AF and EF depot, performing a meta-analysis of observational case series studies...
January 13, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28062719/characteristics-in-limbic-encephalitis-with-anti-adenylate-kinase-5-autoantibodies
#4
Le-Duy Do, Eve Chanson, Virginie Desestret, Bastien Joubert, François Ducray, Sabine Brugière, Yohann Couté, Maité Formaglio, Veronique Rogemond, Catherine Thomas-Antérion, Laura Borrega, Brice Laurens, Francois Tison, Jonathan Curot, Thomas De Brouker, Christine Lebrun-Frenay, Jean-Yves Delattre, Jean-Christophe Antoine, Jerome Honnorat
OBJECTIVE: To report 10 patients with limbic encephalitis (LE) and adenylate kinase 5 autoantibodies (AK5-Abs). METHODS: We conducted a retrospective study in a cohort of 50 patients with LE with uncharacterized autoantibodies and identified a specific target using immunohistochemistry, Western blotting, immunoprecipitation, mass spectrometry, and cell-based assay. RESULTS: AK5 (a known autoantigen of LE) was identified as the target of antibodies in the CSFs and sera of 10 patients with LE (median age 64 years; range 57-80), which was characterized by subacute anterograde amnesia without seizure and sometimes preceded by a prodromal phase of asthenia or mood disturbances...
January 6, 2017: Neurology
https://www.readbyqxmd.com/read/28042592/paroxysmal-nonepileptic-events-in-glut1-deficiency
#5
Joerg Klepper, Baerbel Leiendecker, Christin Eltze, Nicole Heussinger
View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up. A questionnaire was sent out to 60 families. Videos of nonparoxysmal/paroxysmal states in 3 children illustrated the ataxic-dystonic, choreatiform, and dyskinetic-dystonic nature of paroxysmal events...
November 2016: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28039017/development-of-pro-inflammatory-phenotype-in-monocytes-after-engulfing-hb-activated-platelets-in-hemolytic-disorders
#6
Rashi Singhal, Sheetal Chawla, Deepak K Rathore, Angika Bhasym, Gowtham K Annarapu, Vandana Sharma, Tulika Seth, Prasenjit Guchhait
Monocytes and macrophage combat infections and maintain homeostatic balance by engulfing microbes and apoptotic cells, and releasing inflammatory cytokines. Studies have described that these cells develop anti-inflammatory properties upon recycling the free-hemoglobin (Hb) in hemolytic conditions. While investigating the phenotype of monocytes in two hemolytic disorders-paroxysmal nocturnal hemoglobinuria (PNH) and sickle cell disease (SCD), we observed a high number of pro-inflammatory (CD14(+)CD16(hi)) monocytes in these patients...
December 28, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28029552/epilepsia-partialis-continua-a-review
#7
REVIEW
Rūta Mameniškienė, Peter Wolf
Epilepsia partialis contina (EPC) in a narrow definition is a variant of simple focal motor status epilepticus in which frequent repetitive muscle jerks, usually arrhythmic, continue over prolonged periods of time. In a broader definition (used in this review) it also includes non-motor manifestations otherwise known as aura continua. EPC may occur as a single episode, repetitive episodes, it may be chronic progressive or non-progressive. It appears as an unusual manifestation of epilepsy in which more typical paroxysmal events are partly or entirely replaced by the sustained repetition of seizure fragments in rapid succession...
October 18, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28027860/from-nocturnal-frontal-lobe-epilepsy-to-sleep-related-hypermotor-seizures-a-35-year-diagnostic-challenge
#8
Paolo Tinuper, Francesca Bisulli
Nocturnal frontal lobe epilepsy (NFLE) is a focal epilepsy with seizures arising mainly during sleep and characterized by complex, often bizarre, motor behavior or sustained dystonic posturing. First described in 1981, it was initially considered a motor disorder of sleep and was named nocturnal paroxysmal dystonia (NPD). The unusual seizure semiology, onset during sleep, and often uninformative scalp EEG and brain MRI make it difficult to distinguish NPD attacks from other non-epileptic nocturnal paroxysmal events, namely parasomnias...
December 15, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28007585/the-prrt2-knockout-mouse-recapitulates-the-neurological-diseases-associated-with-prrt2-mutations
#9
Caterina Michetti, Enrico Castroflorio, Ivan Marchionni, Nicola Forte, Bruno Sterlini, Francesca Binda, Floriana Fruscione, Pietro Baldelli, Flavia Valtorta, Federico Zara, Anna Corradi, Fabio Benfenati
Heterozygous and rare homozygous mutations in PRoline-Rich Transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders including epilepsy, kinesigenic dyskinesia episodic ataxia and migraine. Most of the mutations lead to impaired PRRT2 expression and/or function. Recently, an important role for PRTT2 in the neurotransmitter release machinery, brain development and synapse formation has been uncovered. In this work, we have characterized the phenotype of a mouse in which the PRRT2 gene has been constitutively inactivated (PRRT2 KO)...
December 20, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27998893/management-of-children-and-young-people-with-headache
#10
William P Whitehouse, Shakti Agrawal
Headache is very common in children and young people. The correct advice and treatment requires consideration of a wide differential diagnosis between primary and secondary headaches, and also of the different types of primary headache. The International Classification of Headache Disorders gives useful descriptions and diagnostic criteria that are especially useful for primary headaches. The National Institute for Health and Care Excellence (NICE) Clinical Guideline 150 provides evidence-based recommendations on treatments for adults and young people from age 12 years...
December 20, 2016: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/27998207/application-of-the-rat-grimace-scale-as-a-marker-of-supraspinal-pain-sensation-after-cervical-spinal-cord-injury
#11
Lonnie E Schneider, Kathryn Y Henley, Omari A Turner, Betty M Pat, Tracy L Niedzielko, Candace L Floyd
Experimental models of neuropathic pain (NP) typically rely on withdrawal responses to assess the presence of pain. Reflexive withdrawal responses to a stimulus are used to evaluate evoked pain and as such do not include the assessment of spontaneous NP nor evaluation of the affective and emotional consequences of pain in animal models. Additionally, withdrawal responses can be mediated by spinal cord reflexes and may not accurately indicate supraspinal pain sensation. This is especially true in models of traumatic spinal cord injury (SCI) wherein spastic syndrome, a motor disorder characterized by exaggeration of the stretch reflex that is secondary to hyperexcitability of the spinal reflex, can cause paroxysmal withdrawals not associated with NP sensation...
December 21, 2016: Journal of Neurotrauma
https://www.readbyqxmd.com/read/27992887/post-war-research-on-post-traumatic-stress-disorder-part-i-research-before-1989
#12
REVIEW
Krzysztof Rutkowski, Edyta Dembińska
The paper presents the post-war history of post-traumatic research conducted at the Department of Psychiatry of the Jagiellonian University and the analysis of the main research approaches and selected publications. The time after World War II passed in Poland in two directions: coping with the finished war trauma and simultaneously the experience of communist persecution trauma. First scientific publications appeared in the fifties and were focused on the research of former concentration camps prisoners (KZ-Syndrome)...
October 31, 2016: Psychiatria Polska
https://www.readbyqxmd.com/read/27936141/hbs-binding-to-gp1b%C3%AE-activates-platelets-in-sickle-cell-disease
#13
Gowtham K Annarapu, Rashi Singhal, Avinash Gupta, Sheetal Chawla, Harish Batra, Tulika Seth, Prasenjit Guchhait
Intravascular hemolysis increases the risk of thrombosis in hemolytic disorders. Our previous study showed that the binding of adult hemoglobin (HbA) to glycoprotein (GP) 1bα induced the activation of platelets. The elevated plasma Hb or platelet surface bound Hb positively correlated with platelet activation in patients with paroxysmal nocturnal hemoglobinuria (PNH). Furthermore, this study shows that the sickle Hb [HbS, occurs due to single nucleotide polymorphism at A>T of β-globin gene of Hb and causes sickle cell disease (SCD)] also bound to GP1bα and activated platelets in a concentration-dependent manner...
2016: PloS One
https://www.readbyqxmd.com/read/27931826/alternating-hemiplegia-of-childhood-as-a-new-presentation-of-adenylate-cyclase-5-mutation-associated-disease-a-report-of-two-cases
#14
Ana Westenberger, Christoph Max, Norbert Brüggemann, Aloysius Domingo, Karen Grütz, Heike Pawlack, Anne Weissbach, Andrea A Kühn, Juliane Spiegler, Anthony E Lang, Jürgen Sperner, Victor S C Fung, Jens Schallner, Gabriele Gillessen-Kaesbach, Alexander Münchau, Christine Klein
Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.
December 6, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27927575/novel-mutation-in-a-patient-with-late-onset-glut1-deficiency-syndrome
#15
Sandra Juozapaite, Ruta Praninskiene, Birute Burnyte, Laima Ambrozaityte, Birute Skerliene
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis...
December 5, 2016: Brain & Development
https://www.readbyqxmd.com/read/27918366/oculographic-clinical-test-of-sensory-integration-and-balance-and-computerized-dynamic-posturography-findings-in-patients-with-psoriatic-arthritis
#16
Juan Carlos Amor-Dorado, Maria P Barreira-Fernandez, Javier Llorca, Miguel A Gonzalez-Gay
OBJECTIVE: To assess the frequency and characteristics of the oculographic findings and the usefulness of the clinical test of sensory integration and balance (CTSIB) for the evaluation of balance in patients with psoriatic arthritis (PsA) by comparing this test with the computerized dynamic posturography (CDP). STUDY DESIGN: A series of consecutive patients that fulfilled the Moll and Wright criteria for PsA and matched controls were studied. SETTING: The study was performed at the Otolaryngology Division of a tertiary reference center...
December 1, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27913467/transplantation-for-bone-marrow-failure-current-issues
#17
Régis Peffault de Latour
The preferred treatment of idiopathic aplastic anemia (AA) is allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen (HLA)-identical sibling donor. Transplantation from a well-matched unrelated donor (MUD) may be considered for patients without a sibling donor after failure of immunosuppressive therapy, as may alternative transplantation (mismatched, cord blood or haplo-identical HSCT) for patients without a MUD. HSCT may also be contemplated for congenital disorders in cases of pancytopenia or severe isolated cytopenia...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27909493/antiarrhythmic-effect-of-antioxidants-in-patients-with-atrial-fibrillation
#18
Rustam Khabchabov PhD, Khabchabov Rg PhD, Makhmudova Er PhD
Resume In accordance with modern concepts, one of the leading roles in the development of paroxysmal atrial fibrillation and flutter, belongs - the restructuring of the myocardium, in second place - sick sinus syndrome and in third place - the presence of accessory pathways and hormonal disorders. The development of atrial fibrillation and flutter in the structural pathology, primarily begins with of drugs if it does not work, we have to carry out ablation. Providing proper, effective and important combination therapy - is the main challenge in cardiology...
April 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27893495/integration-of-eeg-into-psychiatric-practice-a-step-toward-precision-medicine-for-autism-spectrum-disorder
#19
Ronald J Swatzyna, Jay D Tarnow, Robert P Turner, Alexandra J Roark, Erin K MacInerney, Gerald P Kozlowski
INTRODUCTION: Data from an EEG is not commonly used by psychiatrists to plan treatment and medication. However, EEG abnormalities such as isolated epileptiform discharges (IEDs) are found to be more prevalent in psychiatric patients, particularly those diagnosed with Autism Spectrum Disorder (ASD). Most medications prescribed for ASD lower seizure threshold and increase side-effects. Therefore, it may be prudent to order an EEG for ASD cases, especially those categorized as refractory...
November 22, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/27891564/a-homozygous-pign-missense-mutation-in-soft-coated-wheaten-terriers-with-a-canine-paroxysmal-dyskinesia
#20
Ana L Kolicheski, Gary S Johnson, Tendai Mhlanga-Mutangadura, Jeremy F Taylor, Robert D Schnabel, Taroh Kinoshita, Yoshiko Murakami, Dennis P O'Brien
Hereditary paroxysmal dyskinesias (PxD) are a heterogeneous group of movement disorders classified by frequency, duration, and triggers of the episodes. A young-adult onset canine PxD has segregated as an autosomal recessive trait in Soft-Coated Wheaten Terriers. The medical records and videos of episodes from 25 affected dogs were reviewed. The episodes of hyperkinesia and dystonia lasted from several minutes to several hours and could occur as often as >10/day. They were not associated with strenuous exercise or fasting but were sometimes triggered by excitement...
January 2017: Neurogenetics
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