History A 6-year-old male child, born at full term via vaginal delivery, presented with a history of ataxia and delayed motor development. There was no family history of neurodegenerative disease. On examination, there was slight dysarthria, dysmetria on a finger-to-nose test, slowing of fast repetitive movements, and increased deep tendon reflexes and clonus in the lower limbs. Electromyography revealed axonal neuropathy, which was predominantly sensory. On arrival at our institution, unenhanced MRI of the brain was performed, and selected images are presented.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1148/radiol.2021203053 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Cleveland Institute for Computational Biology, Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Background: Despite its high heritability, the genetic mechanisms influencing Alzheimer's Disease (AD), particularly in health disparity populations like African Americans (AA) and Hispanics (HI), are not fully understood. The lack of ancestral diversity in genetic datasets, notably in eQTL studies that associate genetic variation with gene expression, exacerbates these disparities. Our study seeks to address this gap by comparing the AD interactions of racially and ethnically diverse expression Quantitative Trait Loci (eQTL) effects to investigate the genetic influence on AD in underrepresented populations.
View Article and Find Full Text PDFSex-Based Differences in Endovascular Thrombectomy Outcomes for Large Ischemic Stroke: A SELECT2 Subanalysis.
Stroke
January 2025
Neurology, Stroke, University Hospital Cleveland Medical Center - Case Western Reserve University, OH. (A.O., C.S., A.S.).
Background: Several social and biological factors are shown to differentially affect stroke outcomes between men and women. We evaluated whether clinical outcomes and endovascular thrombectomy (EVT) treatment effects differed between the sexes in patients presenting with large ischemic stroke.
Methods: The SELECT2 trial (A Randomized Controlled Trial to Optimize Patient's Selection for Endovascular Treatment in Acute Ischemic Stroke) was a randomized controlled trial assessing the efficacy and safety of EVT in patients with large strokes across the United States, Canada, Europe, Australia, and New Zealand between October 2019 and September 2022.
Introduction: Psoriasis is caused by an interplay between intrinsic and extrinsic factors. Parental consanguinity increases homozygosity in the genome of the offspring, which in turn increases disease risk. The association between parental consanguinity and psoriasis in the offspring remains unexplored.
View Article and Find Full Text PDFA machine learning tool for early identification of celiac disease autoimmunity.
Sci Rep
December 2024
Kahn Sagol Maccabi Research & Innovation Center, Maccabi Healthcare Services, Tel Aviv, Israel.
Identifying which patients should undergo serologic screening for celiac disease (CD) may help diagnose patients who otherwise often experience diagnostic delays or remain undiagnosed. Using anonymized outpatient data from the electronic medical records of Maccabi Healthcare Services, we developed and evaluated five machine learning models to classify patients as at-risk for CD autoimmunity prior to first documented diagnosis or positive serum tissue transglutaminase (tTG-IgA). A train set of highly seropositive (tTG-IgA > 10X ULN) cases (n = 677) with likely CD and controls (n = 176,293) with no evidence of CD autoimmunity was used for model development.
View Article and Find Full Text PDFEffects of timely case conferencing between general practitioners and specialist palliative care services on symptom burden in patients with advanced chronic disease: results of the cluster-randomised controlled KOPAL trial.
BMC Palliat Care
December 2024
Department of General Practice and Primary Care, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.
Background: Patients with advanced chronic non-malignant conditions often experience significant symptom burden. Therefore, overcoming barriers to interprofessional collaboration between general practitioners (GPs) and specialist palliative home care (SPHC) teams is essential to facilitate the timely integration of palliative care elements. The KOPAL trial aimed to examine the impact of case conferences between GPs and SPHC teams on symptom burden and pain in patients with advanced chronic heart failure, chronic obstructive pulmonary disease, and dementia.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!