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Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.
Mov Disord
January 2025
British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.
Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.
Vibro-tactile stimulation of the neck induces head righting in people with cervical dystonia.
Parkinsonism Relat Disord
January 2025
Human Sensorimotor Control Laboratory, School of Kinesiology, University of Minnesota, USA; Center for Clinical Movement Science, University of Minnesota, USA.
Introduction: Cervical dystonia (CD) is characterized by involuntary neck muscle spasms that lead to abnormal head movements or postures. It is associated with somatosensory (tactile and proprioceptive) dysfunction. Here we tested whether vibro-tactile stimulation (VTS) of the cervical muscles constitutes a non-invasive form of neuromodulation of the somatosensory system that can provide temporary symptom relief for people with CD.
View Article and Find Full Text PDFBasal ganglia components have distinct computational roles in decision-making dynamics under conflict and uncertainty.
PLoS Biol
January 2025
Carney Institute for Brain Science, Department of Cognitive & Psychological Sciences, Brown University, Providence, Rhode Island, United States of America.
The basal ganglia (BG) play a key role in decision-making, preventing impulsive actions in some contexts while facilitating fast adaptations in others. The specific contributions of different BG structures to this nuanced behavior remain unclear, particularly under varying situations of noisy and conflicting information that necessitate ongoing adjustments in the balance between speed and accuracy. Theoretical accounts suggest that dynamic regulation of the amount of evidence required to commit to a decision (a dynamic "decision boundary") may be necessary to meet these competing demands.
View Article and Find Full Text PDFThe safety of cyclosporine and tacrolimus in pediatric nephrotic syndrome patients: a disproportionate analysis based on the FAERS database.
Front Pediatr
January 2025
Department of Urology, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, China.
Objective: This study aimed to systematically evaluate the safety of cyclosporine (CsA) and tacrolimus (TAC) in pediatric nephrotic syndrome (NS) patients using real-world data from the FDA Adverse Event Reporting System (FAERS).
Methods: We analyzed adverse event (AE) reports from the FAERS database between Q4 2003 and Q2 2024, focusing on AEs associated with CsA and TAC in NS patients aged 18 years and younger. We employed three signal detection methods-Proportional Reporting Ratio (PRR), Relative Reporting Ratio (RRR), and Reporting Odds Ratio (ROR)-to assess the risk of drug-related AEs.
Second-generation antipsychotic-induced dystonia: Analysis using the Japanese Adverse Drug Event Report (JADER) database.
Psychiatry Clin Neurosci
January 2025
Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Aim: This study aimed to explore the comparative risks for dystonia among different second-generation antipsychotics (SGAs), the influence of sex, and the relationship between the time-to-onset of dystonia and its outcomes.
Methods: We analyzed data from the Japanese Adverse Drug Event Report database from April 2004 to November 2023. Cases involving oral SGAs, excluding clozapine, were extracted.
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