Publications by authors named "Antoniuk S"

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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Background: Infantile epileptic spasms syndrome (IESS) is a rare but severe condition affecting children early and is usually secondary to an identifiable brain disorder. It is related to psychomotor deterioration in childhood and epilepsy in adult life. Treatment is challenging as infantile spasms may not respond to most antiseizure medication, and relapse is frequent.

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Parkinson's disease (PD) is one of the most common neurodegenerative diseases in the world. It is characterized by the presence of not only typical motor symptoms but also several less known and aware non-motor symptoms (NMS). The group of disorders included in the NMS is Impulse Control Disorders (ICDs).

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Contrast-induced acute kidney injury (CI-AKI) can lead to the development of chronic kidney disease (CKD) and impaired in-hospital and long-term outcomes among cardiac patients. The aim of this study was to evaluate the impact of repeated contrast media (CM) administration during a single hospitalization on the rate of CI-AKI. The study group ( = 138) comprised patients with different diagnoses who received CM more than once during hospitalization, while the control group ( = 153) involved CAD patients subject to a single CM dose.

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Malignant cutaneous adnexal tumors are rare dermatosis that can have extradermal twins. Diagnosis of adnexal skin tumors is sometimes difficult. Immunohistochemistry has limited value in the diagnosis.

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A previously healthy 13 year-old boy presented with acute-onset headaches, aphasia and right-sided hemiparesis. Imaging showed cerebral ischemic infarction due to bilateral carotid occlusion, and investigation for stroke etiology diagnosed homocystinuria. Homocystinuria is an autosomal recessive condition that affects the metabolism of the amino acid methionine due to an enzyme deficiency.

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Importance: Research conducted in the United States has found that occupational therapy using Ayres Sensory Integration® is an effective evidence-based intervention for children with autism spectrum disorder (ASD). Replication of this research in other cultures is needed.

Objective: To evaluate the outcomes of occupational therapy using Ayres Sensory Integration in a sample of Brazilian children with ASD.

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Major depressive disorder is a complex disease resulting from aberrant synaptic plasticity that may be caused by abnormal serotonergic signaling. Using a combination of behavioral, biochemical, and imaging methods, we analyze 5-HT7R/MMP-9 signaling and dendritic spine plasticity in the hippocampus in mice treated with the selective 5-HT7R agonist (LP-211) and in a model of chronic unpredictable stress (CUS)-induced depressive-like behavior. We show that acute 5-HT7R activation induces depressive-like behavior in mice in an MMP-9-dependent manner and that post mortem brain samples from human individuals with depression reveal increased MMP-9 enzymatic activity in the hippocampus.

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: A growing number of studies correlated higher levels of serum uric acid (UA) with both: lower risk of Parkinson's Disease (PD) occurrence and slower progression of the disease. Similar conclusions were made where studies correlated UA with atypical Parkinsonisms (AP) progression. A few researchers have studied the issue of the influence of serum UA on the occurrence of non-motor symptoms (NMS) in PD and AP.

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Objective: To evaluate the cognitive and academic profile of preterm newborns at school age and to determine the factors related to prematurity and sociodemographic profile that influence these results.

Methods: Patients aged 6-14 years old that were assisted in the preterm follow-up clinic were recruited. The cognitive, academic, and neurological capacities were accessed through a detailed evaluation with a child neurologist, a neuropsychologist and a psychopedagogue.

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Objective: To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant.

Methods: We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic variant. We searched in Medline (Pubmed) and Embase to collect all articles which included well-characterized males with a single copy of MECP2 carrying a pathogenic or likely pathogenic variant in MECP2 (1999-2020).

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Astrocytes are an important component of the multipartite synapse and crucial for proper neuronal network function. Although small GTPases of the Rho family are powerful regulators of cellular morphology, the signaling modules of Rho-mediated pathways in astrocytes remain enigmatic. Here we demonstrated that the serotonin receptor 4 (5-HT R) is expressed in hippocampal astrocytes, both in vitro and in vivo.

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Objective: Analysis of the effectiveness of early Parental Coaching in the Autism Spectrum Disorder.

Method: Randomized, controlled and blinded clinical trial to analyze parent-child interaction videos.

Results: The sample consisted of 18 children being followed up at the Autism Outpatient Clinic of a Neuropediatric Center in southern Brazil diagnosed with Autism Spectrum Disorder, between 29 and 42 months of age, randomly allocated to two groups: the Study Group (SG; n=9), which received Parental Coaching performed by a professional certified by the Early Start Denver Model; and the Control Group (CG; n=9), which was in a routine follow-up, without treatment and training of parents by a trained professional.

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Aim: To describe the first unprovoked seizure in typically developing children, its clinical characteristics, recurrence rate, and possible risk factors in a real-life setting in Southern Brazil.

Method: In this retrospective cohort study, medical records of typically developing children aged 28 days to 14 years who had a first unprovoked seizure in a single tertiary care center were reviewed, in a 10-year period (2006-2016).

Results: Seventy-four children were included, 41 males and 33 females.

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Objectives: After being diagnosed with idiopathic Parkinson's Disease (IPD) or Atypical Parkinsonism (AP) patients often tend to present non-motor symptoms (NMS). The aim of the study was to explore the differences between occurrence of non-motor symptoms presented by patients with IPD and AP, including sleep, autonomic, psychotic and affective disorders.

Materials And Method: The study included 219 patients (184 with IPD, and 35 with AP) hospitalized between 2016 and 2019 in the Department of Neurology of the Medical University of Silesia.

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Ketamine is an -methyl-d-aspartate receptor antagonist that has gained wide attention as a potent antidepressant. It has also been recently reported to have prophylactic effects in animal models of depression and anxiety. Alterations of neuroplasticity in different brain regions; such as the hippocampus; prefrontal cortex; and amygdala; are a hallmark of stress-related disorders; and such changes may endure beyond the treatment of symptoms.

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Depression is currently among the top five leading causes of the global burden of disease. Chronic unpredictable mild stress (CUMS) is currently the most commonly used, reliable, and effective rodent model of depression. However, for unclear reasons, this protocol is often difficult to reproduce in different laboratories.

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. To investigate a frequency of antibody response to SEREX-identified medullary breast carcinoma autoantigens ZRF1 and KRR1 in sera of breast cancer patients taking into account clinical and molecular characteristics of tumors for opening of new perspectives in creation of minimally invasive immunological tests for cancer diagnostics. .

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Content: Identification of panel of SEREX-defined antigens for breast cancer autoantibodies profile detection.

Objective: To create panel of antigens that can differentiate breast cancer patients and healthy individuals.

Methods: SEREX (serological analysis of cDNA expression libraries) method, ELISA (enzyme-linked immunosorbent assay), qPCR (quantitative polymerase chain reaction).

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The Aim: The creation of a mathematical model of survival in patients with colon adenocarcinoma based on multivariable analysis of the state of cancer cell nuclear apparatus.

Patients And Methods: The study was performed on 141 samples of biopsy materials or material obtained during surgical treatment of the patients with colon adenocarcinoma or benign colon neoplasms with the use of histological, morphometric, densitometric, immunohistochemical and mathematical methods.

Results: It has been shown that each discrete pattern of the state of adenocarcinoma cell nuclei (quantity of DNA, the number and volume of nuclear organizer regions, expression rates of Ki-67, Bcl-2 and p53) is prognostically invalid in the case of its separate use.

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