Tag:

clinical symptoms

Functional neurological disorders
Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis

by myneuronews May 27, 2025

by myneuronews May 27, 2025

Clinical Presentation and Symptoms Phosphoribosylformylglycinamidine synthase (PFAS) deficiency presents a complex array of clinical symptoms …

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Functional neurological disorders
Immune inflammatory regulation in Anti-NMDAR encephalitis: insights from transcriptome analysis

by myneuronews May 26, 2025

by myneuronews May 26, 2025

Immune Mechanisms in Anti-NMDAR Encephalitis Anti-NMDAR encephalitis is characterized by the presence of antibodies that …

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Functional neurological disorders
Biochemical investigation of pathogenic missense mutations of human 4-amino butyrate aminotransferase towards the understanding of the molecular pathogenesis of GABA transaminase deficiency

by myneuronews May 25, 2025

by myneuronews May 25, 2025

Biochemical Characterization of Mutant 4-Aminobutyrate Aminotransferase In this detailed study, researchers focused on the biochemical …

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Functional neurological disorders
Comprehensive Neuropsychological Assessment of Confirmed Xeroderma Pigmentosum a Variant with Neurological Manifestations: Case Report

by myneuronews May 25, 2025

by myneuronews May 25, 2025

Clinical Presentation and Symptoms The case of a patient with xeroderma pigmentosum (XP) confirmed the …

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Functional neurological disorders
Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology

by myneuronews May 25, 2025

by myneuronews May 25, 2025

Neurodevelopmental Variants and Penetrance Neurodevelopmental copy number variants (CNVs) represent significant alterations in an individual’s …

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Functional neurological disorders
Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2

by myneuronews May 24, 2025

by myneuronews May 24, 2025

Background of Ataxia with Oculomotor Apraxia Type 2 Ataxia with oculomotor apraxia type 2 (AOA2) …

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Functional neurological disorders
Alterations of White Matter Functional Networks in Pediatric Drug-Resistant Temporal Lobe Epilepsy: A Graph Theory Analysis Study

by myneuronews May 24, 2025

by myneuronews May 24, 2025

Alterations in White Matter Networks The study of white matter networks in pediatric patients suffering …

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Functional neurological disorders
Aggressive and Refractory Attack of AQP4-IgG-Positive Neuromyelitis Optica Spectrum Disorder Treated With Ravulizumab: A Case Report

by myneuronews May 22, 2025

by myneuronews May 22, 2025

Clinical Presentation and Diagnosis In this case report, the patient presented with symptoms characteristic of …

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Functional neurological disorders
Changes in brain functional connectivity and clinical correlations in neuromyelitis optica spectrum disorder: a longitudinal resting-state fMRI study

by myneuronews May 20, 2025

by myneuronews May 20, 2025

Overview of Neuromyelitis Optica Spectrum Disorder Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare, autoimmune …

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Functional neurological disorders
HSD17B1-mediated trophoblast differentiation lowers estrogen levels in early-onset preeclampsia

by myneuronews May 20, 2025

by myneuronews May 20, 2025

HSD17B1 Role in Trophoblast Differentiation The study of HSD17B1 (Hydroxysteroid Dehydrogenase Type 1) highlights its …

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Acute effects of sport-related concussion among adolescents with a self-reported history of treatment for anxiety or depression
Objective: This study compared symptom reporting and cognitive test performance within 72 h of a suspected concussion between high school student-athletes with and without pre-injury self-reported mental health treatment. Methods: Eight hundred seventy-nine high school athletes with (n = 75) and without (n = 804) a self-reported history of treatment for anxiety or depression underwent […]
Boston University Alzheimer's Disease Research Center Clinical Core: Infrastructure to facilitate research on post-traumatic Alzheimer's disease and related dementias
We describe the rationale, methodology, and design of the Boston University Alzheimer's Disease Research Center (BU ADRC) Clinical Core (CC). The CC characterizes a longitudinal cohort of participants with/without brain trauma to characterize the clinical presentation, biomarker profiles, and risk factors of post-traumatic Alzheimer's disease (AD) and AD-related dementias (ADRD), including chronic traumatic encephalopathy (CTE). […]
Sensory processing patterns in pediatric mild traumatic brain injury: A longitudinal study
Sensory processing (SP) difficulties, such as heightened sensitivity to sensory input, have been linked to prolonged recovery and persistent post-concussive symptoms in adults following mild traumatic brain injury (mTBI). However, research on SP across different sensory inputs after pediatric mTBI is limited. This study examined SP patterns in children and adolescents aged 6-17 years with […]
Effects of Lifetime Exposure to Sports-Related Head Impacts on Brain Injury and Inflammatory Blood Biomarkers Among Former Middle-Aged Athletes
Repetitive head impacts from contact sports are associated with an increased risk of neurodegenerative conditions. While studies have examined acute and chronic outcomes in young and deceased athletes, research on middle-aged former athletes remains limited. We employed multiplex biomarker approaches to examine whether brain injury and systemic inflammatory blood biomarkers are reflective of ≥10 years […]
Pain Management Strategies and Adverse Effects of Opioids in Patients with Neurotrauma with Acute and Chronic Pain
Pain is prevalent and a major source of disability after a traumatic brain injury (TBI) and a spinal cord injury (SCI). With a view of reducing the pain burden in neurotrauma, this study aimed to describe the use of pain management strategies and the adverse effects of opioids in patients with TBI and SCI. We […]