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Phenotype Spectrum of TRPM3-Associated Disorders.
Ann Neurol
January 2025
Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.
Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).
A Focal Traumatic Injury to the Neonatal Rodent Spinal Cord Causes an Immediate and Massive Spreading Depolarization Sustained by Chloride Ions, with Transient Network Dysfunction.
Cell Mol Neurobiol
January 2025
Neuroscience Department, International School for Advanced Studies (SISSA), Via Bonomea 265, Trieste, TS, Italy.
In clinics, physical injuries to the spinal cord cause a temporary motor areflexia below lesion, known as spinal shock. This topic is still underexplored due to the lack of preclinical spinal cord injury (SCI) models that do not use anesthesia, which would affect spinal excitability. Our innovative design considered a custom-made micro impactor that provides localized and calibrated strikes to the ventral surface of the thoracic spinal cord of the entire CNS isolated from neonatal rats.
View Article and Find Full Text PDFHD-tACS over the left frontal aslant tract entrains theta activity associated with speech motor control.
Brain Res
December 2024
Human Neurophysiology and Neuromodulation Lab, Louisiana State University, Baton Rouge, LA, USA.
Transient disruption or permanent damage to the left Frontal Aslant Tract (FAT) is associated with deficits in speech production. The present study examined the application of theta (4 Hz) high-definition transcranial alternating current stimulation (HD-tACS) over the left SMA and IFG -as a part of FAT- as a potential multisite protocol to modulate neural and behavioral correlates of speech motor control. Twenty-one young adults participated in three counterbalanced sessions in which they received in-phase, anti-phase, and sham theta HD-tACS.
View Article and Find Full Text PDFComparison of 1% chloroprocaine hydrochloride versus hyperbaric bupivacaine spinal in patients undergoing anorectal surgery in an ambulatory surgery center: a double-blind randomized clinical trial.
Reg Anesth Pain Med
December 2024
Anesthesiology, Montefiore Medical Center, Bronx, New York, USA
Background: Preservative-free chloroprocaine is a promising spinal anesthetic for ambulatory surgeries, offering a short duration of action and minimal side effects, which promote faster recovery and discharge. Thus, this study aimed to compare chloroprocaine hydrochloride to the widely used bupivacaine as a spinal anesthetic in ambulatory anorectal surgeries. We hypothesized that chloroprocaine will lead to quicker recovery and discharge, supporting its use in the ambulatory surgical setting.
View Article and Find Full Text PDFDisrupted callosal connectivity underlies long-lasting sensory-motor deficits in an NMDAreceptor antibody encephalitis mouse model.
J Clin Invest
December 2024
Department of Neurology, UCSF, San Francisco, United States of America.
NMDA receptor mediated autoimmune encephalitis (NMDAR-AE) frequently results in persistent sensory-motor deficits, especially in children, yet the underlying mechanisms remain unclear. This study investigated the long- term effects of exposure to a patient-derived GluN1-specific monoclonal antibody (mAb) during a critical developmental period (from postnatal day 3 to day 12) in mice. We observed long-lasting sensory-motor deficits characteristic of NMDAR-AE, along with permanent changes in callosal axons within the primary somatosensory cortex (S1) in adulthood, including increased terminal branch complexity.
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