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paroxysmal disorder

Mar Llamas-Velasco, Victoria Alegría, Ángel Santos-Briz, Lorenzo Cerroni, Heinz Kutzner, Luis Requena
We review the most characteristic clinical and histopathologic findings of the cutaneous manifestations of the occlusive nonvasculitic vasculopathic disorders. Clinically, most of these conditions are characterized by retiform purpura. Histopathologic findings consist of occlusion of the vessel lumina with no vasculitis. Different disorders may produce nonvasculitic occlusive vasculopathy in cutaneous blood and lymphatic vessels, including embolization due to cholesterol and oxalate emboli, cutaneous intravascular metastasis from visceral malignancies, atrial myxomas, intravascular angiosarcoma, intralymphatic histiocytosis, intravascular lymphomas, endocarditis, crystal globulin vasculopathy, hypereosinophilic syndrome, and foreign material...
October 18, 2016: American Journal of Dermatopathology
Maristela Mian Ferreira, Maurício Malavasi Ganança, Heloisa Helena Caovilla
INTRODUCTION: Otolith function can be studied by testing the subjective visual vertical, because the tilt of the vertical line beyond the normal range is a sign of vestibular dysfunction. Benign paroxysmal positional vertigo is a disorder of one or more labyrinthine semicircular canals caused by fractions of otoliths derived from the utricular macula. OBJECTIVE: To compare the subjective visual vertical with the bucket test before and immediately after the particle repositioning maneuver in patients with benign paroxysmal positional vertigo...
September 28, 2016: Brazilian Journal of Otorhinolaryngology
Wee Tin K Kao, Lorne S Parnes, Richard A Chole
OBJECTIVES/HYPOTHESIS: Benign paroxysmal positional vertigo (BPPV) is the most common vestibular disorder with an incidence between 10.7 and 17.3 per 100,000 persons per year. The mechanism for BPPV has been postulated to involve displaced otoconia resulting in canalithiasis. Although particulate matter has been observed in the endolymph of affected patients undergoing posterior canal occlusion surgery, an otoconial origin for the disease is still questioned. STUDY DESIGN: In this study, particulate matter was extracted from the posterior semicircular canal of two patients and examined with scanning electron microscopy...
October 11, 2016: Laryngoscope
Y E M Dreissen, D C Cath, M A J Tijssen
Functional jerks are among the most common functional movement disorders. The diagnosis of functional jerks is mainly based on neurologic examination revealing specific positive clinical signs. Differentiation from other jerky movements, such as tics, organic myoclonus, and primary paroxysmal dyskinesias, can be difficult. In support of a functional jerk are: acute onset in adulthood, precipitation by a physical event, variable, complex, and inconsistent phenomenology, suggestibility, distractibility, entrainment and a Bereitschaftspotential preceding the movement...
2017: Handbook of Clinical Neurology
A Frazer-Abel, L Sepiashvili, M M Mbughuni, M A V Willrich
Historically, complement disorders have been attributed to immunodeficiency associated with severe or frequent infection. More recently, however, complement has been recognized for its role in inflammation, autoimmune disorders, and vision loss. This paradigm shift requires a fundamental change in how complement testing is performed and interpreted. Here, we provide an overview of the complement pathways and summarize recent literature related to hereditary and acquired angioedema, infectious diseases, autoimmunity, and age-related macular degeneration...
2016: Advances in Clinical Chemistry
Christine Spröte, Franziska Richter, Anne Bauer, Julia Gerstenberger, Angelika Richter
Dystonia is a movement disorder, characterized by involuntary muscle contractions resulting in abnormal movements and/or postures. Antidystonic effects of benzodiazepines in patients with different types of dystonia could be replicated in the dt(sz) mutant hamster, a phenotypic model of paroxysmal dystonia. Compounds with preferred binding at specific subunits of the gamma aminobutyric acid type A (GABAA) receptor may provide a more beneficial spectrum of effects in comparison with benzodiazepines. We therefore examined the effects of the α1β3γ2 GABAA receptor preferring compound zolpidem (2...
September 30, 2016: European Journal of Pharmacology
Bekir Enes Demiryürek, Aslı Aksoy Gündogdu, Bilgehan Atılgan Acar, Aybala Neslihan Alagoz
Alien hand syndrome (AHS) is an involuntary and rare neurological disorder emerges at upper extremity. AHS is a disconnection syndrome with the symptoms of losing sense of agency and sense of ownership, and presence of involuntary autonomic motor activity. There are frontal, callosal and posterior types of AHS and each of them occurs depend on the lesions of different of the brain. Posterior variant is a rarely encountered AHS type compared to others. AHS, generally regarded as persistent, but rarely maybe observed as paroxysmal...
October 2016: Cognitive Neurodynamics
K Jahn
Vertigo and dizziness of at least moderate severity occur in >5% of school-aged children and cause considerable restrictions in participation in school and leisure activity. More than 50% of dizzy children also have headache. Vestibular migraine and benign paroxysmal vertigo as a migraine precursor are the most common diagnoses in dizziness clinics for children and adolescents. They account for 30-60% of diagnoses. Other common causes are somatoform, orthostatic, or posttraumatic dizziness. All other disorders that are known to cause vertigo and dizziness in adults also occur in children, but incidence rates are usually lower...
2016: Handbook of Clinical Neurology
D Nuti, M Masini, M Mandalà
Benign paroxysmal positional vertigo is a common labyrinthine disorder caused by a mechanic stimulation of the vestibular receptors within the semicircular canals. It is characterized by positional vertigo and positional nystagmus, both provoked by changes in the position of the head with respect to gravity. The social impact of the disease and its direct and indirect costs to healthcare systems are significant owing to impairment of daily activities and increased risk of falls. The first description of a patient with benign paroxysmal positional vertigo is from Robert Bárány in 1921, but the features of the syndrome and the diagnostic maneuver were well described by Dix and Hallpike in 1952...
2016: Handbook of Clinical Neurology
D Straumann
In most dizzy patients a limited selection of bedside tests, together with the history, is adequate to establish a differential diagnosis and select the next diagnostic and therapeutic procedures. A set of basic bedside tests that should be applied in every patient with vertigo or imbalance allows identifying: (1) patients who need immediate referral for further assessment and treatment; (2) patients with nonthreatening disorders for which treatment can be started without more detailed testing; (3) patients with benign paroxysmal vertigo, in whom a detailed work-up is not required and who can immediately be treated with an appropriate particle-repositioning maneuver; and (4) patients who need a comprehensive neuro-otologic and neurologic work-up...
2016: Handbook of Clinical Neurology
A Bisdorff
History taking is an essential part in the diagnostic process of vestibular disorders. The approach to focus strongly on the quality of symptoms, like vertigo, dizziness, or unsteadiness, is not that useful as these symptoms often coexist and are all nonspecific, as each of them may arise from vestibular and nonvestibular diseases (like cardiovascular disease) and do not permit to distinguish potentially dangerous from benign causes. Instead, patients should be categorized if they have an acute, episodic, or chronic vestibular syndrome (AVS, EVS, or CVS) to narrow down the spectrum of differential diagnosis...
2016: Handbook of Clinical Neurology
H K Neuhauser
This chapter gives an overview of the epidemiology of dizziness, vertigo, and imbalance, and of specific vestibular disorders. In the last decade, population-based epidemiologic studies have complemented previous publications from specialized settings and provided evidence for the high burden of dizziness and vertigo in the community. Dizziness (including vertigo) affects about 15% to over 20% of adults yearly in large population-based studies. Vestibular vertigo accounts for about a quarter of dizziness complaints and has a 12-month prevalence of 5% and an annual incidence of 1...
2016: Handbook of Clinical Neurology
Flavia Valtorta, Fabio Benfenati, Federico Zara, Jacopo Meldolesi
In the past few years, proline-rich transmembrane protein (PRRT)2 has been identified as the causative gene for several paroxysmal neurological disorders. Recently, an important role of PRRT2 in synapse development and function has emerged. Knock down of the protein strongly impairs the formation of synaptic contacts and neurotransmitter release. At the nerve terminal, PRRT2 endows synaptic vesicle exocytosis with Ca(2+) sensitivity by interacting with proteins of the fusion complex and with the Ca(2+) sensors synaptotagmins (Syts)...
October 2016: Trends in Neurosciences
Karin Buiting, Charles Williams, Bernhard Horsthemke
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity. Angelman syndrome results from loss of function of the imprinted UBE3A (ubiquitin-protein ligase E3A) gene on chromosome 15q11.2-q13. This loss of function can be caused by a mutation on the maternal allele, a 5-7 Mb deletion of the maternally inherited chromosomal region, paternal uniparental disomy of chromosome 15, or an imprinting defect...
October 2016: Nature Reviews. Neurology
Maria Petri, Magdalena Chirilă, Sorana D Bolboacă, Marcel Cosgarea
INTRODUCTION: Health-related quality of life (HRQoL) is used to denote that portion of the quality of life that is influenced by the person's health. OBJECTIVES: To compare the HRQoL of individuals with vestibular disorders of peripheral origin by analyzing functional, emotional and physical disabilities before and after vestibular treatment. METHODS: A prospective, non randomized case-controlled study was conduced in the ENT Department, between January 2015 and December 2015...
August 24, 2016: Brazilian Journal of Otorhinolaryngology
A Méneret, E Roze
Paroxysmal movement disorders comprise both paroxysmal dyskinesia, characterized by attacks of dystonic and/or choreic movements, and episodic ataxia, defined by attacks of cerebellar ataxia. They may be primary (familial or sporadic) or secondary to an underlying cause. They can be classified according to their phenomenology (kinesigenic, non-kinesigenic or exercise-induced) or their genetic cause. The main genes involved in primary paroxysmal movement disorders include PRRT2, PNKD, SLC2A1, ATP1A3, GCH1, PARK2, ADCY5, CACNA1A and KCNA1...
August 2016: Revue Neurologique
Josef Finsterer, Salma Majid Wakil
PURPOSE: Stroke-like episodes (SLEs) are a hallmark of various mitochondrial disorders, in particular MELAS syndrome. SLEs manifest with vasogenic oedema (DWI and ADC hyperintensity) or partial cytotoxic oedema (DWI hyperintensity, ADC hypointensity) in the acute and subacute stage, and with gyriform T1-hyperintensity (cortical necrosis) in the chronic stage. PRINCIPAL RESULTS: SLEs must be clearly distinguished from ischaemic stroke, since management of these two entities is different...
November 2016: European Journal of Paediatric Neurology: EJPN
Richard E Rosch, Michael Farquhar, Paul Gringras, Deb K Pal
Narcolepsy with cataplexy is a rare, but important differential diagnosis for daytime sleepiness and atonic paroxysms in an adolescent. A recent increase in incidence in the pediatric age group probably linked to the use of the Pandemrix influenza vaccine in 2009, has increased awareness that different environmental factors can "trigger" narcolepsy with cataplexy in a genetically susceptible population. Here, we describe the case of a 13-year-old boy with narcolepsy following yellow fever vaccination. He carries the HLA DQB1*0602 haplotype strongly associated with narcolepsy and cataplexy...
2016: Frontiers in Neurology
Fatimah Al-Ani, Ian Chin-Yee, Alejandro Lazo-Langner
Paroxysmal nocturnal hemoglobinuria (PNH) is a nonmalignant clonal disorder resulting from somatic mutation in the PIG-A gene leading to a deficiency of the membrane-anchoring molecule glycosylphosphatidylinositol. The lack of expression of two glycosylphosphatidylinositol-anchored proteins involved in the regulation of the complement system renders PNH erythrocytes susceptible to complement-mediated lysis. Clinical manifestations include thromboembolic disease, chronic kidney injury, pulmonary hypertension, smooth muscle dysfunction, and chronic hemolysis...
2016: Therapeutics and Clinical Risk Management
Ashley Cannon, Svetlana Kurklinsky, Kimberly J Guthrie, Douglas L Riegert-Johnson
UNLABELLED: Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. Setting. Academic tertiary care center. Design. CASE REPORT: Case Report. A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation was found to have a gain of function SCN9A mutation by whole exome sequencing. This mutation resulted in an SCN9A channelopathy that is most consistent with a diagnosis of paroxysmal extreme pain disorder...
2016: Case Reports in Neurological Medicine
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