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Neurology uncommon conditions

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17 papers 1000+ followers
By Faye Kehler Family Physician and GP Anesthetist since 1987 interested in all aspects of Medicine
https://www.readbyqxmd.com/read/26969889/how-often-and-when-fisher-syndrome-is-overlapped-by-guillain-barr%C3%A3-syndrome-or-bickerstaff-brainstem-encephalitis
#1
Y Sekiguchi, M Mori, S Misawa, S Sawai, N Yuki, M Beppu, S Kuwabara
BACKGROUND AND PURPOSE: Fisher syndrome (FS) may overlap with Guillain-Barré syndrome (GBS), in particular the pharyngeal-cervical-brachial variant form (PCB-GBS), or Bickerstaff brainstem encephalitis (BBE). Our aim was to elucidate the frequency of this overlap and the patterns of clinical progression in patients with FS. METHODS: Sixty consecutive patients with FS were studied. FS/PCB-GBS was diagnosed when the patients developed pharyngeal, cervical and/or brachial weakness...
June 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/26928362/clinical-reasoning-a-71-year-old-man-with-rapidly-progressive-dementia
#2
Nicki Niemann, Navid Jalali, Emilie Rouah
No abstract text is available yet for this article.
March 1, 2016: Neurology
https://www.readbyqxmd.com/read/26880469/make-your-diagnosis-the-case-nonneurological-tetraplegia-the-diagnosis-alcohol-associated-tubular-dysfunction
#3
Ralph Kettritz, Benjamin Gollasch, Marina Zaks, Friedrich C Luft
No abstract text is available yet for this article.
March 2016: Kidney International
https://www.readbyqxmd.com/read/26873958/cutaneous-sensory-and-autonomic-denervation-in-cadasil
#4
Maria Nolano, Vincenzo Provitera, Vincenzo Donadio, Giuseppe Caporaso, Annamaria Stancanelli, Francesca Califano, Luigi Pianese, Rocco Liguori, Lucio Santoro, Michele Ragno
OBJECTIVE: To assess the involvement of the peripheral nervous system in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by means of immunofluorescence and confocal analysis of punch skin biopsies. METHODS: We recruited 14 unrelated patients with CADASIL (M/F = 9/5; age 53.9 ± 10.5 years) and 52 healthy controls (M/F = 31/21; age 53.8 ± 9.8). Patients underwent clinical and neuroradiologic assessment. Three-millimeter punch skin biopsies were taken from the fingertip, the thigh, and the distal leg and processed using indirect immunofluorescence and a panel of primary antibodies to mark vessels and sensory and autonomic nerve fibers...
March 15, 2016: Neurology
https://www.readbyqxmd.com/read/26833942/pearls-oy-sters-localization-in-acute-stroke-management-thinking-straight-when-it-comes-down-to-crunch-time
#5
Joy Vijayan, Teoh Hock Luen, Eric Ting, Chou Ning
No abstract text is available yet for this article.
February 2, 2016: Neurology
https://www.readbyqxmd.com/read/26783272/clinical-reasoning-a-34-year-old-man-with-headache-diplopia-and-hemiparesis
#6
Matthew R Lincoln, Raphael Schneider, Marika Hohol
No abstract text is available yet for this article.
January 19, 2016: Neurology
https://www.readbyqxmd.com/read/26712835/clinical-reasoning-a-64-year-old-man-with-progressive-paraspinal-muscle-weakness
#7
Raphael Schneider, Claude Steriade, Peter Ashby, Tim-Rasmus Kiehl
No abstract text is available yet for this article.
January 5, 2016: Neurology
https://www.readbyqxmd.com/read/26628493/clinical-reasoning-a-48-year-old-man-with-walking-difficulty
#8
Dheeraj Kalladka, Ahmed Iqbal, Elaine MacDuff, James Overell
No abstract text is available yet for this article.
December 1, 2015: Neurology
https://www.readbyqxmd.com/read/25491076/clinical-and-experimental-studies-of-potentially-pathogenic-brain-directed-autoantibodies-current-knowledge-and-future-directions
#9
REVIEW
James Varley, Angela Vincent, Sarosh R Irani
The field of neuronal surface-directed antibody-mediated diseases of the central nervous system has dramatically expanded in the last few years and now forms an important cluster of treatable neurological conditions. In this review, we focus on three areas. First, we review the demographics, clinical features and treatment responses of these conditions. Second, we consider their pathophysiology and compare autoantibody mechanisms and their effects to genetic or pharmacological disruptions of the target antigens...
2015: Journal of Neurology
https://www.readbyqxmd.com/read/25359261/genome-sequencing-identifies-a-novel-mutation-in-atp1a3-in-a-family-with-dystonia-in-females-only
#10
Robert Wilcox, Ingrid Brænne, Norbert Brüggemann, Susen Winkler, Karin Wiegers, Lars Bertram, Tim Anderson, Katja Lohmann
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or postures. Several genetic causes of dystonia have been elucidated but genetic causes of dystonia specifically affecting females have not yet been described. In the present study, we investigated a large dystonia family from New Zealand in which only females were affected. They presented with a generalized form of the disorder including laryngeal, cervical, and arm dystonia. We found a novel, likely disease-causing, three base-pair deletion (c...
January 2015: Journal of Neurology
https://www.readbyqxmd.com/read/25223960/usefulness-of-11c-methionine-positron-emission-tomography-for-the-diagnosis-of-progressive-multifocal-leukoencephalopathy
#11
Shinichi Shirai, Ichiro Yabe, Takahiro Kano, Yuka Shimizu, Toru Sasamori, Kazunori Sato, Makoto Hirotani, Takayuki Nonaka, Ikuko Takahashi, Masaaki Matsushima, Naoya Minami, Kazuo Nakamichi, Masayuki Saijo, Kanako C Hatanaka, Tohru Shiga, Shinya Tanaka, Hidenao Sasaki
Progressive multifocal leukoencephalopathy (PML) is a subacute demyelinating disease of the brain caused by the JC virus that occurs mainly in immunocompromised patients. The prognosis is very poor. As the lesion looks like non- specific leukoencephalopathy, making a diagnosis at the early stage is very difficult. We report three PML cases in which there was a mismatch between (11)C-methionine-positron emission tomography (MET-PET) uptake and (18)F-fluorodeoxyglucose-positron emission tomography (FDG-PET) uptake...
December 2014: Journal of Neurology
https://www.readbyqxmd.com/read/25159927/congenital-myasthenic-syndromes-and-the-neuromuscular-junction
#12
REVIEW
Pedro M Rodríguez Cruz, Jacqueline Palace, David Beeson
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity of neuromuscular transmission. This review updates the reader on the new mutations of known CMS genes, new causative genes and the treatment strategies for these increasingly heterogeneous disorders. It also provides a brief summary of the congenital myopathies with myasthenic features. RECENT FINDINGS: The discovery of causative genes encoding for ubiquitously expressed and extrajunctional molecules has changed our previous view of congenital myasthenia...
October 2014: Current Opinion in Neurology
https://www.readbyqxmd.com/read/25145891/central-ocular-motor-disorders-including-gaze-palsy-and-nystagmus
#13
REVIEW
M Strupp, O Kremmyda, C Adamczyk, N Böttcher, C Muth, C W Yip, T Bremova
An impairment of eye movements, or nystagmus, is seen in many diseases of the central nervous system, in particular those affecting the brainstem and cerebellum, as well as in those of the vestibular system. The key to diagnosis is a systematic clinical examination of the different types of eye movements, including: eye position, range of eye movements, smooth pursuit, saccades, gaze-holding function and optokinetic nystagmus, as well as testing for the different types of nystagmus (e.g., central fixation nystagmus or peripheral vestibular nystagmus)...
September 2014: Journal of Neurology
https://www.readbyqxmd.com/read/25145890/the-genetics-of-ataxia-through-the-labyrinth-of-the-minotaur-looking-for-ariadne-s-thread
#14
REVIEW
M Mancuso, D Orsucci, G Siciliano, U Bonuccelli
Among the hereditary cerebellar ataxias (CAs), there are at least 36 different forms of autosomal dominant cerebellar ataxia (ADCAs), 20 autosomal recessive cerebellar ataxias (ARCAs), two X-linked ataxias, and several forms of ataxia associated with mitochondrial defects. Despite the steady increase in the number of newly discovered CA genes, patients, especially those with putative ARCAs, cannot yet be genotyped. Moreover, in daily clinical practice, ataxia may present as an isolated cerebellar syndrome or, more often, it is associated with a broad spectrum of neurological manifestations including pyramidal, extrapyramidal, sensory, and cognitive dysfunction...
September 2014: Journal of Neurology
https://www.readbyqxmd.com/read/25105461/clinical-and-scientific-aspects-of-acetylcholine-receptor-myasthenia-gravis
#15
REVIEW
Marlies Keijzers, Gisela Nogales-Gadea, Marc de Baets
PURPOSE OF REVIEW: Myasthenia gravis is a rare disease that causes impairment of the neuromuscular junction. In this review we will focus on the literature published in the last 18 months regarding autoimmune myasthenia gravis caused by antibodies against the nicotinic acetylcholine receptor myasthenia gravis. Acetylcholine receptor is the most common target of this autoimmune disease. RECENT FINDINGS: A high number of long-lived plasma cells are present in myasthenia gravis patients...
October 2014: Current Opinion in Neurology
https://www.readbyqxmd.com/read/24746174/diagnostic-precision-of-pet-imaging-and-functional-mri-in-disorders-of-consciousness-a-clinical-validation-study
#16
COMPARATIVE STUDY
Johan Stender, Olivia Gosseries, Marie-Aurélie Bruno, Vanessa Charland-Verville, Audrey Vanhaudenhuyse, Athena Demertzi, Camille Chatelle, Marie Thonnard, Aurore Thibaut, Lizette Heine, Andrea Soddu, Mélanie Boly, Caroline Schnakers, Albert Gjedde, Steven Laureys
BACKGROUND: Bedside clinical examinations can have high rates of misdiagnosis of unresponsive wakefulness syndrome (vegetative state) or minimally conscious state. The diagnostic and prognostic usefulness of neuroimaging-based approaches has not been established in a clinical setting. We did a validation study of two neuroimaging-based diagnostic methods: PET imaging and functional MRI (fMRI). METHODS: For this clinical validation study, we included patients referred to the University Hospital of Liège, Belgium, between January, 2008, and June, 2012, who were diagnosed by our unit with unresponsive wakefulness syndrome, locked-in syndrome, or minimally conscious state with traumatic or non-traumatic causes...
August 9, 2014: Lancet
https://www.readbyqxmd.com/read/24368466/repurposing-diflunisal-for-familial-amyloid-polyneuropathy-a-randomized-clinical-trial
#17
RANDOMIZED CONTROLLED TRIAL
John L Berk, Ole B Suhr, Laura Obici, Yoshiki Sekijima, Steven R Zeldenrust, Taro Yamashita, Michael A Heneghan, Peter D Gorevic, William J Litchy, Janice F Wiesman, Erik Nordh, Manuel Corato, Alessandro Lozza, Andrea Cortese, Jessica Robinson-Papp, Theodore Colton, Denis V Rybin, Alice B Bisbee, Yukio Ando, Shu-ichi Ikeda, David C Seldin, Giampaolo Merlini, Martha Skinner, Jeffery W Kelly, Peter J Dyck
IMPORTANCE: Familial amyloid polyneuropathy, a lethal genetic disease caused by aggregation of variant transthyretin, induces progressive peripheral nerve deficits and disability. Diflunisal, a nonsteroidal anti-inflammatory agent, stabilizes transthyretin tetramers and prevents amyloid fibril formation in vitro. OBJECTIVE: To determine the effect of diflunisal on polyneuropathy progression in patients with familial amyloid polyneuropathy. DESIGN, SETTING, AND PARTICIPANTS: International randomized, double-blind, placebo-controlled study conducted among 130 patients with familial amyloid polyneuropathy exhibiting clinically detectable peripheral or autonomic neuropathy at amyloid centers in Sweden (Umeå), Italy (Pavia), Japan (Matsumoto and Kumamoto), England (London), and the United States (Boston, Massachusetts; New York, New York; and Rochester, Minnesota) from 2006 through 2012...
December 25, 2013: JAMA: the Journal of the American Medical Association
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