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https://www.readbyqxmd.com/read/28203183/cerebral-venous-thrombosis-in-the-superior-sagittal-sinus-as-a-rare-cause-of-a-paroxysmal-kinetic-tremor
#1
Kei Murao, Shuji Arakawa, Yoshihiko Furuta, Masahiro Shijo, Tetsuro Ago, Takanari Kitazono
Cerebral venous thrombosis (CVT) has a broad spectrum of clinical presentation compared to arterial etiology. Seizure is one of the common symptoms and is more frequent than in other stroke types. Hence, transient neurological symptoms in CVT patients are usually due to epileptic seizures, while transient repetitive movement disorder is extremely rare except as a complication of epilepsy. We report a case of CVT in the superior sagittal sinus with a 1-year history of paroxysmal kinetic tremor without evident epilepsy...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/28202097/independent-prescriber-physiotherapist-led-balance-clinic-the-southport-and-ormskirk-pathway
#2
L Burrows, T H Lesser, A V Kasbekar, N Roland, M Billing
OBJECTIVE: To report the introduction and impact of non-medical prescribing, initiated to improve patient pathways for those presenting with dizziness and balance disorders. METHODS: The Southport and Ormskirk physiotherapy-led vestibular clinic sees and treats all patients with dizziness and balance disorders referred to the ENT department. Letters are triaged by an audiologist, who also performs an otological examination and hearing test; this is followed by an assessment with the independent prescriber physiotherapist...
February 16, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28192116/prrt2-inhibits-the-proliferation-of-glioma-cells-by-modulating-unfolded-protein-response-pathway
#3
Guanghui Bi, Jingfeng Yan, Shuzhen Sun
Accumulating studies reported mutations in the gene encoding the proline-rich transmembrane protein 2 (PRRT2) to be causative for several paroxysmal neurological disorders, including paroxysmal kinesigenic dyskinesia (PKD), PKD combined with infantile seizures (ICCA), and benign familial infantile seizures (BFIS). However, the impact of PRRT2 in tumorigenesis is not known. Based on a large-scale data analysis, we found that PRRT2 was down-regulated in glioma tumor tissues compared with normal brain tissue. Dysregulation of PRRT2 was not induced by mutation, copy number variation and epigenetic modification, but modulated by microRNA-30a-5p...
February 10, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28190498/classification-of-involuntary-movements-in-dogs-paroxysmal-dyskinesias
#4
REVIEW
Mark Lowrie, Laurent Garosi
Paroxysmal dyskinesias (PDs) are a group of hyperkinetic movement disorders characterised by circumscribed episodes of disturbed movement, superimposed on a background state in which such abnormality is absent. There is no loss of consciousness. Episodes can last seconds, minutes or hours, and the beginning and end of the movement disturbance are abrupt. Neurological examination is typically normal between episodes. PDs are associated with a broad spectrum of clinical presentations, encompassing various aetiologies...
February 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28188857/sensitivity-to-carbon-dioxide-and-translational-studies-of-anxiety-disorders
#5
Marco Battaglia
Heightened concentrations of CO2 in inhaled air provoke temporary acidification of the brain, followed by compensatory hyperventilation and increased arousal/anxiety. These responses are likely to map a basic, latent general alarm/avoidance system that is largely shared across mammals, and are sources of individual differences. By showing paroxysmal respiratory and emotional responses to CO2 challenges, humans with panic and separation anxiety disorders lie at one extreme of the distribution for CO2 sensitivity...
February 7, 2017: Neuroscience
https://www.readbyqxmd.com/read/28186667/thalamocortical-dysconnectivity-in-paroxysmal-kinesigenic-dyskinesia-combining-functional-magnetic-resonance-imaging-and-diffusion-tensor-imaging
#6
Zhiliang Long, Qiang Xu, Huan-Huan Miao, Yang Yu, Mei-Ping Ding, Huafu Chen, Zhi-Rong Liu, Wei Liao
BACKGROUND: Paroxysmal kinesigenic dyskinesia is associated with macrostructural and microstructural abnormalities in the thalamus. OBJECTIVES: To examine functional and structural connectivity of thalamocortical networks in paroxysmal kinesigenic dyskinesia and to further investigate the effect of mutation of the proline-rich transmembrane protein 2 on thalamocortical networks. METHODS: Patients with paroxysmal kinesigenic dyskinesia (n = 20), subdivided into proline-rich transmembrane protein 2-mutated (n = 8) and nonmutated patients (n = 12) and healthy controls (n = 20) underwent resting-state functional MRI and diffusion imaging scan...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28183575/choreoathetotic-syndrome-following-cardiac-surgery
#7
Michela Bisciglia, Frédéric London, Jonathan Hulin, André Peeters, Adrian Ivanoiu, Anne Jeanjean
Movement disorders following heart surgery are very unusual. Post-pump chorea is mainly a pediatric complication of heart surgery, typically manifesting after a latent period of normality and is usually related with long extracorporeal circulation time and deep hypothermia. We report a 73-year-old woman, without risk factors predisposing to paroxysmal movement disorders, presenting acute choreoathetoid movements 5 days after aortic valvular replacement with normal extracorporeal circulation time and perioperative normothermia...
February 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28168240/cracked-tooth-syndrome-mimicking-trigeminal-autonomic-cephalalgia-a-report-of-four-cases
#8
Noboru Noma, Kohei Shimizu, Kosuke Watanabe, Andrew Young, Yoshiki Imamura, Junad Khan
BACKGROUND: This report describes four cases of cracked tooth syndrome secondary to traumatic occlusion that mimicked trigeminal autonomic cephalalgias. All patients were referred by general practitioners to the Orofacial Pain Clinic at Nihon University Dental School for assessment of atypical facial pain. CLINICAL PRESENTATION: Case 1: A 51-year-old woman presented with severe pain in the maxillary and mandibular left molars. Case 2: A 47-year-old woman presented with sharp, shooting pain in the maxillary left molars, which radiated to the temple and periorbital region...
February 6, 2017: Quintessence International
https://www.readbyqxmd.com/read/28167008/prevalence-of-vestibular-and-balance-disorders-in-children-and-adolescents-according-to-age-a-multi-center-study
#9
Jong Dae Lee, Chang-Hee Kim, Seok Min Hong, Sung Huhn Kim, Myung-Whan Suh, Min-Beom Kim, Dae Bo Shim, Hosuk Chu, No Hee Lee, Minbum Kim, Sung Kwang Hong, Jae-Hyun Seo
OBJECTIVES: Children differ from adults in the expression of dizziness symptoms and the causes of dizziness. In several studies, benign paroxysmal vertigo of childhood (BPVC) and vestibular migraine (VM) were seen exclusively in children with vertigo, but the age threshold used to define 'children' varies, and there are few reported studies about adolescents with dizziness. In this study, we investigated the prevalence of vestibular and balance disorders according to age category in a multi-center study (otolaryngology departments of 11 hospitals) of children and adolescents...
March 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28157311/structure-based-library-design-and-fragment-screening-for-the-identification-of-reversible-complement-factor-d-protease-inhibitors
#10
Anna Vulpetti, Stefan Randl, Simon Rüdisser, Nils Ostermann, Paulus Erbel, Aengus MacSweeney, Thomas Zoller, Bahaa Salem, Bernd Gerhartz, Frederic Cumin, Ulrich Hommel, Claudio Dalvit, Edwige Lorthiois, Jürgen Maibaum
Chronic dysregulation of alternative complement pathway activation has been associated with diverse clinical disorders including age-related macular degeneration and paroxysmal nocturnal hemoglobinurea. Factor D is a trypsin-like serine protease with a narrow specificity for arginine in the P1 position, which catalyzes the first enzymatic reaction of the amplification loop of the alternative pathway. In this article, we describe two hit finding approaches leading to the discovery of new chemical matter for this pivotal protease of the complement system: in silico active site mapping for hot spot identification to guide rational structure-based design and NMR screening of focused and diverse fragment libraries...
February 3, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28145833/a-new-theory-for-m%C3%A3-ni%C3%A3-re-s-disease
#11
Jeremy Hornibrook, Philip Bird
Ménière's disease is an inner ear disorder characterized by vertigo attacks, fluctuating and progressive hearing loss, tinnitus, and aural fullness in the affected ear. The pathophysiology of Ménière's disease remains elusive. Theories so far are anatomical variation in the size or position of the endolymphatic sac and duct, viral inflammation or autoimmune involvement of the sac, or a genetically determined abnormality of endolymph control. Animal studies on blocking the ductus reuniens and endolymphatic duct have produced hydrops in the cochlea, saccule, and utricle...
February 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28131175/central-positional-nystagmus-associated-with-cerebellar-tumors-clinical-and-topographical-analysis
#12
Bang-Hoon Cho, Sang-Hoon Kim, Sung-Sik Kim, Yun-Ju Choi, Seung-Han Lee
PURPOSE: Positional nystagmus is usually caused by peripheral vestibular disorder, mostly benign paroxysmal positional vertigo (BPPV). However, positional nystagmus is also encountered in central lesions. We aimed to determine clinical characteristics of the structures responsible for central positional nystagmus (CPN) associated with brain tumors. METHODS: All four patients (3 men; range=19-77years) had an evaluation of spontaneous and positional nystagmus using video-oculography...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28129950/eeg-findings-during-paroxysmal-hemiplegia-in-a-patient-with-glut1-deficiency
#13
S Pellegrin, G Cantalupo, R Opri, B Dalla Bernardina, F Darra
BACKGROUND: A growing number of studies have disclosed the myriad of features that can suggest the diagnosis of a Glucose-transporter-1 deficiency (GLUT1D). The occurrence of paroxysmal movement disorders such as exercise-induced dystonia and non-kinesigenic dyskinesia, received considerable emphasis, while limited attention has been paid to other paroxysmal phenomena, as transitory neurological disorders. These paroxysmal events are roughly and variably described as limb weakness, hemiparesis or ataxia...
January 17, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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