Results 111 to 120 of about 20,177 (294)

Relationship between hearing function and myasthenia gravis: a contemporary review [PDF]

, 2016
There is increasing evidence of a connection between hearing function and myasthenia gravis (MG). Studies of the pathophysiological basis of this relationship suggest that acetylcholine receptors (AChRs) on outer hair cells (OHCs) play a central role. In
ALTISSIMI, Giancarlo, CIANFRONE, Giancarlo, DI STADIO, Arianna, MAZZEI, FILIPPO, RALLI, MASSIMO, TURCHETTA, Rosaria   +5 more
core   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Acute muscular weakness in children

Arquivos de Neuro-Psiquiatria
Acute muscle weakness in children is a pediatric emergency. During the diagnostic approach, it is crucial to obtain a detailed case history, including: onset of weakness, history of associated febrile states, ingestion of toxic substances/toxins ...
Ricardo Pablo Javier Erazo Torricelli
doaj   +1 more source

Pulmonary function in patients with Amyotrophic Lateral Sclerosis at disease onset

Monaldi Archives for Chest Disease, 2015
Background. Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder affecting both the upper and lower motor neurons. Deteriorating pulmonary function as a reflection of progressive respiratory muscle weakness is a common feature,
B. Chandrasoma, D. Balfe, T. Naik, A. Elsayegh, M. Lewis, Z. Mosenifar   +5 more
doaj   +1 more source

Supportive and symptomatic management of amyotrophic lateral sclerosis [PDF]

, 2016
The main aims in the care of individuals with amyotrophic lateral sclerosis (ALS) are to minimize morbidity and maximize quality of life. Although no cure exists for ALS, supportive and symptomatic care provided by a specialist multidisciplinary team can
A Alonso, A Chio, A Chio, A Chio, A Gauthier, A Hogden, A Jawaid, A Kheder, A Kurt, A Pinto, A Pizzimenti, A Szczudlik, A-C Heritier Barras, A-M Wills, AA Suárez, AC Tzeng, AE Renton, AM Stiggelbout, B Funalot, B Marin, B Whitehead, BR Brooks, C Bouteloup, C Terzano, C-S Hwang, CE Jackson, Christopher J. McDermott, CL O'Neill, DA Restivo, DJ Berlowitz, DJ Lange, DJ Oliver, E Majounie, E Neppelberg, EK Plowman, EK Plowman, EK Plowman, EP Pioro, Esther V. Hobson, EV Hobson, EV Hobson, G Bensimon, G Marquardt, G Marquardt, H Hayashi, H Reed, J Brettschneider, J Cooper-Knock, J Gonzalez-Bermejo, J Johnson, J Rooney, J Sancho, J Sancho, J-WG Meijer, JC Desport, JC Roche, JG Rabkin, JM Shefner, JP Gallagher, JP Van den Berg, L Genton, L Mackenzie, L McCluskey, LH Goldstein, M DeJesus-Hernandez, M Elamin, M Fried-Oken, M Marchetti, M O'Brien, M Peters, MA Del Aguila, MD Weiss, MK Rafiq, MK Rafiq, MR O'Brien, N Guy, NL Ashworth, O Dogu, P Barbero, P Carratù, P Craig, P Wicks, P Wicks, PH Gordon, PJ Zettler, PS Group, R Baldinger, R Balendra, R Spataro, RG Miller, RG Miller, RS Bedlack, S Abrahams, S Baxter, S Connolly, S El-Tawil, S Iannaccone, S McClelland, S Paganoni, SC Bourke, SC Bourke, SC Woolley, SK Baxter, SK Baxter, SK Baxter, SM Aoun, T Aridegbe, T Mills, T Stavroulakis, T Stavroulakis, T Stavroulakis, VE Drory   +111 more
core   +1 more source

Distinct Prescription Patterns Emerge Years Before ALS Diagnosis: A Nationwide Registry‐Based Study

Annals of Neurology, EarlyView.
Objective The prodromal phase of amyotrophic lateral sclerosis (ALS) is poorly defined. We aimed to characterize prescription drug use patterns in the pre‐diagnostic period by analyzing nationwide prescription data to identify the earliest divergence between individuals who developed ALS and matched healthy controls.
Magne Haugland Solheim, Trond Riise, Marianna Cortese, Ola Nakken, Ole‐Bjørn Tysnes, Jannicke Igland, Kjetil Bjornevik   +6 more
wiley   +1 more source

Risk factors for respiratory failure among hospitalized patients with Guillain–Barré syndrome

Neurología (English Edition)
Background: Guillain–Barré syndrome (GBS) is an acute inflammatory polyneuropathy that can lead to respiratory failure. In this study, we evaluate early clinical risk factors for respiratory failure at the time of hospital admission.
L.P. Maskin, M. Wilken, F. Rodriguez Lucci, J.P. Wisnivesky, F. Barroso, N. Wainsztein   +5 more
doaj   +1 more source

Head and Arm Tremor in X-linked Spinal and Bulbar Muscular Atrophy

Tremor and Other Hyperkinetic Movements, 2014
Background: X‐linked spinal and bulbar muscular atrophy (SBMA) is a rare adult‐onset neuronopathy. Although tremor is known to occur in this disease, the number of reported cases of SBMA with tremor is rare, and the number with videotaped documentation ...
Irene Aicua, Okker Verhagen, Naroa Arenaza, Esther Cubo   +3 more
doaj   +1 more source

Variants and variations among gullian barre syndrome presenting as acute flaccid paralysis [PDF]

, 2014
Acute flaccid paralysis (AFP) is a clinical syndrome characterized by rapid onset of weakness that frequently includes respiratory and bulbar weakness.
Ahmed Mahesar, Sarfraz, Chand, Lal, Ibrahim Siddiqui, Alam, Mustafa Tunio, Ghulam, Rasool Bouk, Ghulam   +4 more
core   +1 more source

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source