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Down syndrome, resulting from trisomy of human chromosome 21, is a common form of chromosomal disorder that results in intellectual disability and altered risk of several medical conditions. Individuals with Down syndrome have a greatly increased risk of Alzheimer's disease (DSAD), due to the presence of the APP gene on chromosome 21 that encodes the amyloid-β precursor protein (APP). APP can be processed to generate amyloid-β, which accumulates in plaques in the brains of people who have Alzheimer's disease and is the upstream trigger of disease.
View Article and Find Full Text PDFEfficacy and safety of intravenous ferric carboxymaltose in the treatment of Restless Legs Syndrome: a systematic review and meta-analysis.
Front Neurol
January 2025
Department of Public Health, Atish Dipankar University of Science and Technology, Dhaka, Bangladesh.
Introduction: Restless Legs Syndrome (RLS), also known as Willis-Ekbom Disease (WED), is a sensorimotor disorder characterized by an uncontrollable urge to move the legs, typically accompanied by discomfort. Low iron levels, pregnancy, and age are some identified risk factors. RLS is treated using various pharmacological options, including dopamine agonists, benzodiazepines, anticonvulsants, opioids, and bupropion.
View Article and Find Full Text PDFAssociation of Lambert-Eaton Myasthenic Syndrome and First Episode Psychosis: A Case Report.
J Psychiatr Pract
January 2025
Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht University, Maastricht, The Netherlands.
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune neuromuscular junction disorder characterized by proximal weakness, autonomic dysfunction, and areflexia associated with antibodies against voltage-gated calcium channels (VGCCs). Psychotic symptoms can occur in many autoimmune neurological disorders but they have rarely been observed in myasthenic syndromes. We report the case of a 21-year-old woman with primary autoimmune LEMS due to anti-VGCC antibodies subtype P/Q, who developed psychotic symptoms 3 years after the onset of motor symptoms.
View Article and Find Full Text PDFUltrasound-guided minimally invasive thread release of carpal tunnel: a cadaveric study.
Radiol Med
January 2025
Neuromuscular Imaging Ordinationszentrum Döbling, Heiligenstädter Straße 46-48, 1190, Vienna, Austria.
Purpose: Thread release of the carpal tunnel is the most recent of several minimally invasive ultrasound-guided carpal tunnel release techniques. The purpose of this article is to provide a step-by-step guide for minimally invasive, ultrasound-guided thread release of the carpal tunnel focused on transecting the transverse carpal ligament with minimal damage to the palmar aponeurosis on anatomical specimens.
Methods: Fifteen ultrasound-guided carpal tunnel thread releases were performed on the wrists of soft-embalmed anatomical specimens, which were dissected immediately after the intervention.
Favorable response to ketogenic diet therapy in a patient with -related epilepsy.
Epilepsy Behav Rep
March 2025
Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.
Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.
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