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https://www.readbyqxmd.com/read/29771692/the-expanding-spectrum-of-paroxysmal-movement-disorders-update-from-clinical-features-to-therapeutics
#1
Eavan M McGovern, Emmanuel Roze, Timothy J Counihan
PURPOSE OF REVIEW: This review will discuss the expanding clinical spectrum of paroxysmal movement disorders and therapeutic options in light of emerging genotypic heterogeneity in these conditions. RECENT FINDINGS: Paroxysmal movement disorders comprise a heterogeneous group of rare neurological conditions characterized by intermittent episodes of abnormal movement associated with various triggers. As the clinical and genotypic spectrum of these disorders evolves, so also has the range of therapeutic options...
May 15, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29755372/use-of-laser-assisted-optical-rotational-cell-analyzer-lorrca-maxsis-in-the-diagnosis-of-rbc-membrane-disorders-enzyme-defects-and-congenital-dyserythropoietic-anemias-a-monocentric-study-on-202-patients
#2
Anna Zaninoni, Elisa Fermo, Cristina Vercellati, Dario Consonni, Anna P Marcello, Alberto Zanella, Agostino Cortelezzi, Wilma Barcellini, Paola Bianchi
Chronic hemolytic anemias are a group of heterogeneous diseases mainly due to abnormalities of red cell (RBC) membrane and metabolism. The more common RBC membrane disorders, classified on the basis of blood smear morphology, are hereditary spherocytosis (HS), elliptocytosis, and hereditary stomatocytoses (HSt). Among RBC enzymopathies, the most frequent is pyruvate kinase (PK) deficiency, followed by glucose-6-phosphate isomerase, pyrimidine 5' nucleotidase P5'N, and other rare enzymes defects. Because of the rarity and heterogeneity of these diseases, diagnosis may be often challenging despite the availability of a variety of laboratory tests...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29752000/noncompliance-of-patients-with-driving-restrictions-due-to-uncontrolled-epilepsy
#3
Laurent M Willems, Philipp S Reif, Susanne Knake, Hajo M Hamer, Constantin Willems, Günter Krämer, Felix Rosenow, Adam Strzelczyk
Epilepsies are a common and chronic neurological disorder characterized by sustained risk of recurrent seizures. Because of paroxysmal and often unpredictable occurrence of seizures, patients with uncontrolled epilepsy are subject to disease-specific restrictions in daily life, such as their career choice or specific work limitations. According to German law and many other European and international guidelines, driving is strictly prohibited in patients with uncontrolled epilepsy so as to increase active and passive safety in public road traffic...
May 9, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29744125/a-rare-case-of-pacemaker-induced-tachycardia-in-an-elderly-woman-with-cor-triatriatum-sinistrum
#4
Nicoleta Cornelia Mirescu, Lucian Mureşan, Anca Daniela Farcaş
Pacemaker induced tachycardia (PIT) is a rare iatrogenic rhythm disorder which tipically occurs in patients with dual-chamber pacemakers and has different causes, including oversensing of atrial tachyarrhythmia waves. Cor triatriatum sinistrum is a congenital abnormality infrequent in adults, associated with a high risk of atrial tachyarrhythmia. We present the case of a 80-year-old woman incidentally diagnosed with cor triatriatum sinistrum echocardiographycally, implanted with a DDD pacemaker for sinus node disease, who developed atrial tachyarrhythmia (paroxysmal atrial fibrillation and left atrial tachycardia), which triggered a PIT, successfully aborted by automatic mode switch...
August 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29737565/pain-processing-in-functional-and-idiopathic-dystonia-an-exploratory-study
#5
Francesca Morgante, Angela Matinella, Elisa Andrenelli, Lucia Ricciardi, Cosimo Allegra, Carmen Terranova, Paolo Girlanda, Michele Tinazzi
BACKGROUND: Pain is often experienced by patients with functional dystonia and idiopathic cervical dystonia and is likely to be determined by different neural mechanisms. OBJECTIVE: In this exploratory study, we tested the sensory-discriminative and cognitive-emotional component of pain in patients with functional and idiopathic dystonia. METHODS: Ten patients with idiopathic cervical dystonia, 12 patients with functional dystonia, and 16 age- and sex-matched healthy controls underwent psychophysical testing of tactile and pain thresholds and pain tolerance...
May 8, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29735119/paroxysmal-dyskinesias
#6
Sara McGuire, Swati Chanchani, Divya S Khurana
Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD), nonkinesigenic (PNKD), and exercise induced (PED). These are usually differentiated from each other based on their phenotypic and genotypic characteristics. Genetic causes of PD are continuing to be discovered. Genes found to be involved in the pathogenesis of PD include MR-1, PRRT2, SLC2A1, and KCNMA1. The differential diagnosis is broad as PDs can mimic psychogenic events, seizure, or other movement disorders...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29733088/pediatric-abdominal-migraine-current-perspectives-on-a-lesser-known-entity
#7
REVIEW
Jyoti Mani, Shailender Madani
Background: Abdominal migraine (AM) is a common cause of chronic and recurrent abdominal pain in children. It is characterized by paroxysms of moderate to severe abdominal pain that is midline, periumbilical, or diffuse in location and accompanied by other symptoms including headache, anorexia, nausea, vomiting, or pallor. Despite the presence of comprehensive diagnostic criteria under Rome IV classification of functional gastrointestinal disorders (FGIDs) and International Classification of Headache Disorders, it continues to be an underdiagnosed entity...
2018: Pediatric Health, Medicine and Therapeutics
https://www.readbyqxmd.com/read/29721255/paroxysmal-nocturnal-hemoglobinuria-when-delay-in-diagnosis-and-long-therapy-occurs
#8
Salvatrice Mancuso, Giuseppe Sucato, Melania Carlisi, Marco Santoro, Giuseppe Tarantino, Emilio Iannitto, Mariasanta Napolitano, Sergio Siragusa
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal disorder characterized by hemolytic anemia, bone marrow failure and thrombosis, caused by a somatic mutation in PIG-A gene that results in the absence of CD55 and CD59, two important complement regulatory proteins. In this paper, a case of PNH is retrospectively examined looking for clinical and laboratory features, and the entire course of the disease from the onset of the symptoms is described, together with an adequate follow- up over a 7-years treatment period...
March 2, 2018: Hematology Reports
https://www.readbyqxmd.com/read/29720819/functional-neuroimaging-in-trigeminal-autonomic-cephalalgias
#9
REVIEW
Mark Obermann, Dagny Holle, Steffen Nagel
Functional neuroimaging was able to identify key structures for the pathophysiology of trigeminal autonomic cephalalgias (TACs) including cluster headache, paroxysmal hemicrania, and short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing or cranial autonomic features and hemicrania continua. The posterior hypothalamus was the structure most consistently depicted with functional imaging in different states of disease with and without pain. Network-oriented imaging techniques such as resting-state functional resonance imaging were able to show a broader involvement of human trigeminal pain processing in the underlying pathophysiological mechanisms of the different TACs, highlighting similarities between this distinct group of primary headache disorders, while also demonstrating the differences in brain activation across these disorders...
April 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29720818/classification-of-trigeminal-autonomic-cephalalgia-what-has-changed-in-international-classification-of-headache-disorders-3-beta
#10
REVIEW
K Ravishankar
The term "Trigeminal Autonomic Cephalalgia (TAC)" was first coined by Goadsby and Lipton[1] to include a group of relatively rare primary headache disorders characterized by moderate to severe, short-lived head pain in the trigeminal distribution with unilateral cranial parasympathetic autonomic features, such as lacrimation, rhinorrhea, conjunctival injection, eyelid edema, and ptosis. In the current International Classification of Headache Disorders (ICHD-3 beta),[2] the TAC group includes cluster headache (CH), paroxysmal hemicrania (PH), short-lasting unilateral neuralgiform headache attacks (SUNHAs) and their 2 subforms - SUNHAs with conjunctival injection and tearing (SUNCT), SUNHAs with cranial autonomic symptoms (SUNA)...
April 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29720817/overview-of-trigeminal-autonomic-cephalalgias-nosologic-evolution-diagnosis-and-management
#11
REVIEW
Diana Yi-Ting Wei, Jonathan Jia Yuan Ong, Peter James Goadsby
The term trigeminal autonomic cephalalgias (TACs) encompasses four primary headache disorders - cluster headache, paroxysmal hemicrania (PH), hemicrania continua (HC), short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT)/short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms (SUNA). All of these except HC are characterized by short-lasting headaches. HC is characterized by a continuous unilateral headache that waxes and wanes in its intensity without complete resolution...
April 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29720814/paroxysmal-hemicrania
#12
REVIEW
Chinar Osman, Anish Bahra
Paroxysmal hemicrania (PH) is a primary headache disorder belonging to the group of trigeminal autonomic cephalalgias(TACs). Patients typically experience intense lateralzsed headaches with pain primarily in the ophthalmic trigeminal distribution (V1) associated with superimposed ipsilateral cranial autonomic features. PH is distinguished from other TACs by an exquisite responsiveness to therapeutic doses of indomethacin. Patients may need to be maintained on indomethacin for several months before trials of reduction can be attempted...
April 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29693497/ocular-neuromyotonia-case-reports-and-literature-review
#13
Anne-Catherine Stockman, Catherine Cassiman, Maria Dieltiëns, Hilde Janssens, Maria Van Lammeren, Liesbet Beelen, Veerle Van Bellinghen
Ocular neuromyotonia (ONM) is a rare eye movement disorder, presenting as a paroxysmal involuntary spasm of one or more extra-ocular muscles, that can persist for a few seconds up to several minutes. The phenomenon is caused by the contraction of an extra-ocular muscle, excited by a damaged nerve, which leads to delayed muscle relaxation. We present eight patients with this rare condition together with an overview of the literature on all published ONM cases. One of the presented cases is possibly secondary to hypovitaminosis D...
April 25, 2018: Strabismus
https://www.readbyqxmd.com/read/29685082/peripheral-vestibular-disorders-in-children-and-adolescents-with-concussion
#14
Jacob R Brodsky, Talia N Shoshany, Sophie Lipson, Guangwei Zhou
Objective To review peripheral vestibular disorders in pediatric patients with dizziness following concussion. Study Design Case series with chart review. Setting Pediatric vestibular clinic and pediatric multidisciplinary concussion clinic at a tertiary level pediatric hospital. Subjects and Methods We retrospectively reviewed 109 patients seen for dizziness following a concussion between September 2012 and July 2015. Patients were ≤20 years of age at the time of concussion. Incidences of specific peripheral vestibular disorders were assessed along with timing of diagnosis relative to the date of injury, diagnostic test findings, and treatment interventions associated with those diagnoses...
April 1, 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29681801/anatomy-based-networks-and-topology-alteration-in-seizure-related-cognitive-outcomes
#15
REVIEW
Qian Wu, Charlie W Zhao, Zhe Long, Bo Xiao, Li Feng
Epilepsy is a paroxysmal neurological disorder characterized by recurrent and unprovoked seizures affecting approximately 50 million people worldwide. Cognitive dysfunction induced by seizures is a severe comorbidity of epilepsy and epilepsy syndromes and reduces patients' quality of life. Seizures, along with accompanying histopathological and pathophysiological changes, are associated with cognitive comorbidities. Advances in imaging technology and computing allow anatomical and topological changes in neural networks to be visualized...
2018: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29663119/multicenter-data-banking-in-management-of-dizzy-patients-first-results-from-the-dizzynet-registry-project
#16
Eva Grill, Gülden Akdal, Sandra Becker-Bense, Steffen Hübinger, Doreen Huppert, Erna Kentala, Ralf Strobl, Andreas Zwergal, Nese Celebisoy
PURPOSE: Comprehensive phenotypical data across countries is needed to understand the determinants, prognosis and consequences of vestibular disease. The registry is a data repository for the members of the European DizzyNet. We report results from a pilot study using data from Turkey and Germany. METHODS: The pilot study included a convenience sample of patients aged 18 or above referred to Ege University Medical School Hospital, Dokuz Eylül University Hospital, Izmir, Turkey, and the German Center for German Center for Vertigo and Balance Disorders, University on Munich, Germany, with symptoms of vertigo or dizziness...
April 16, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29656928/benign-paroxysmal-migraine-variants-of-infancy-and-childhood-transitions-and-clinical-features
#17
Jacob Brodsky, Karampreet Kaur, Talia Shoshany, Sophie Lipson, Guangwei Zhou
INTRODUCTION: Migraine variant disorders of childhood include benign paroxysmal torticollis of infancy (BPTI) and benign paroxysmal vertigo of childhood (BPVC). This study aimed to review our experience with BPTI and BPVC and determine the incidence of children transitioning between each of these disorders and to vestibular migraine (VM). METHODS: We retrospectively reviewed the medical records of patients seen at the Balance and Vestibular Program at Boston Children's Hospital between January 2012 and December 2016 who were diagnosed with BPTI, BPVC, and/or VM...
March 30, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29650526/flushing-disorders-associated-with-gastrointestinal-symptoms-part-2-systemic-miscellaneous-conditions
#18
REVIEW
Vaibhav Rastogi, Devina Singh, Joseph J Mazza, Dennis Yang, Dipendra Parajuli, Steven H Yale
Flushing disorders with involvement of the gastrointestinal tract represent a heterogeneous group of conditions. In part 1 discussed were neuroendocrine tumors (NET), mast cell activation disorders (MCAD), and hyperbasophilia. In this section are covered the remaining flushing disorders which primarily or secondarily involves the gastrointestinal tract. This includes dumping syndrome, mesenteric traction syndrome, rosacea, hyperthyroidism and thyroid storm, anaphylaxis, panic disorders, paroxysmal extreme pain disorder, and food, alcohol and medications...
April 12, 2018: Clinical Medicine & Research
https://www.readbyqxmd.com/read/29650525/flushing-disorders-associated-with-gastrointestinal-symptoms-part-1-neuroendocrine-tumors-mast-cell-disorders-and-hyperbasophila
#19
REVIEW
Vaibhav Rastogi, Devina Singh, Joseph J Mazza, Dennis Yang, Dipendra Parajuli, Steven H Yale
Flushing is the subjective sensation of warmth accompanied by visible cutaneous erythema occurring throughout the body with a predilection for the face, neck, pinnae, and upper trunk where the skin is thinnest and cutaneous vessels are superficially located and in greatest numbers. Flushing can be present in either a wet or dry form depending upon whether neural-mediated mechanisms are involved. Activation of the sympathetic nervous system results in wet flushing, accompanied by diaphoresis, due to concomitant stimulation of eccrine sweat glands...
April 12, 2018: Clinical Medicine & Research
https://www.readbyqxmd.com/read/29609146/effects-of-a-psychotherapeutic-group-intervention-in-patients-with-refractory-mesial-temporal-lobe-epilepsy-and-comorbid-psychogenic-nonepileptic-seizures-a-nonrandomized-controlled-study
#20
Amanda Cristian Serafim de Barros, Ana Eliza Romano Furlan, Lucia Helena Neves Marques, Gerardo Maria de Araújo Filho
PURPOSE: Psychogenic nonepileptic seizures (PNES) are paroxysmal episodes superficially resembling epileptic seizures but are not associated with any electrical abnormalities. Despite the existence of recent evidence addressing psychological interventions on PNES, there is a scarcity of studies investigating such interventions on patients with dual diagnoses, such as in temporal lobe epilepsy/mesial temporal sclerosis (TLE-MTS) with comorbid PNES; TLE-MTS is a very frequent epilepsy syndrome found in tertiary centers...
March 27, 2018: Seizure: the Journal of the British Epilepsy Association
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