Results 51 to 60 of about 66,871 (301)

Do carbamates cause polyneuropathy?

open access: yes, 2006
Carbamates are reversible inhibitors of acetylcholinesterase, and some also inhibit neuropathy target esterase (NTE), the target in organophosphate-induced delayed polyneuropathy.
M. Lotti   +3 more
core   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta   +9 more
wiley   +1 more source

Association of common genetic variants with chronic axonal polyneuropathy in the general population: a genome-wide association study

open access: yesFrontiers in Neurology
IntroductionDisease susceptibility of chronic axonal polyneuropathy is not fully explained by clinical risk factors. Therefore, we determined the contribution of common genetic variants in chronic axonal polyneuropathy in the general population ...
Noor E. Taams   +9 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Unusual Presentation of Legionella as an Acute Flaccid Quadriparesis in a Case of Guillain-Barre Syndrome [PDF]

open access: yesJournal of Clinical and Diagnostic Research
Guillain-Barré Syndrome (GBS) is a rare polyradiculoneuropathy of the peripheral nerves and, occasionally, the cranial nerves, causing dysfunction, segmental demyelination, and/or axonal degeneration.
Sangram S Mangudkar   +4 more
doaj   +1 more source

Partial hearing recovery after cochlear nerve surface transplantation of hair follicle‐derived neural crest stem cells in neural hearing loss rat

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study comprises three experimental parts. Part 1. Time‐course of ouabain‐induced hearing loss. Rats received ouabain (10 mM) via round window application. ABR/DPOAE tests and histological analyses were performed at 2, 7, and 30 days post‐treatment to characterize SGN and glial cell degeneration. Part 2.
Huidong Chen   +9 more
wiley   +1 more source

Myofibrillar Myopathy Mimicking Polyneuropathy

open access: yesCase Reports in Neurology, 2020
A 76-year-old man with a 5-year history of gait difficulties was suspected to have length-dependent sensorimotor polyneuropathy. Electrodiagnostic results pointed to a foot drop of neurogenic etiology, except for the prominence of myotonic discharges on ...
Pierre R. Bourque   +2 more
doaj   +1 more source

Severe length‐dependent peripheral polyneuropathy in a patient with subacute combined spinal cord degeneration secondary to recreational nitrous oxide abuse: A case report and literature review

open access: yesClinical Case Reports, 2023
Nitrous oxide abuse can have detrimental effects on the central and peripheral nervous systems. This case study report aims to demonstrate a combination of severe generalized sensorimotor polyneuropathy and cervical myelopathy related to vitamin B12 ...
Ventzislav Bonev   +3 more
doaj   +1 more source

Diabetic polyneuropathy and the risk of developing diabetic retinopathy: a nationwide, population-based study

open access: yes, 2017
Purpose: To assess the relationship between diabetic polyneuropathy (DPN) and the risk of diabetic retinopathy (DR). Methods: From 1997 to 2010, we identified 5031 newly diagnosed DPN patients and 20 124 controls matched for sex, age, and index year ...
王一中   +1 more
core   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

open access: yesAnnals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos   +46 more
wiley   +1 more source

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