Publications by authors named "S M Antoniuk"

Purpose: Stroke mimics (SMs) are conditions that present similarly to acute cerebrovascular accidents (CVA), potentially leading to diagnostic errors made by physicians or emergency medical teams (EMT). This study aimed to analyse the profile of patients transferred by EMT to the neurological emergency department (NED) with suspected CVA, and to assess the incidence and characteristics of SMs.

Methods: This retrospective study analyzed data from patients admitted to the NED with suspected CVA, transferred by EMT between August 1, 2021 and to January 31, 2022.

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Article Synopsis
  • * A genetic diagnosis of TSC aids in confirming the clinical diagnosis and helps in managing care and monitoring patients.
  • * In a study of 116 individuals, 91% had pathogenic DNA alterations in TSC-related genes, with detailed functional assessments revealing novel variants impacting TSC protein activity.
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Background:  Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity.

Objective:  To assess the neuropsychological profile of individuals clinically diagnosed with TSC and the factors that could significantly impact their cognitive development.

Methods:  A total of 62 individuals with ages ranging from 3 to 38 years were followed up in a tertiary attention hospital in Southern Brazil, and they were assessed using a standard battery and the Vineland Adaptive Behavior Scales, when intellectual disability was observed.

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Background: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria.

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Background And Objectives: Impulse control disorders (ICDs) are characterized by potentially harmful actions resulting from disturbances in the self-control of emotions and behavior. ICDs include disorders such as gambling, hypersexuality, binge eating, and compulsive buying. ICDs are known non-motor symptoms in Parkinson's disease (PD) and are associated primarily with the use of dopaminergic treatment (DRT) and especially dopamine agonists (DA).

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