Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
HSP90 Family Members, Their Regulators and Ischemic Stroke Risk: A Comprehensive Molecular-Genetics and Bioinformatics Analysis.
Front Biosci (Schol Ed)
December 2024
Laboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 305041 Kursk, Russia.
Background: Disruptions in proteostasis are recognized as key drivers in cerebro- and cardiovascular disease progression. Heat shock proteins (HSPs), essential for maintaining protein stability and cellular homeostasis, are pivotal in neuroperotection. Consequently, deepening the understanding the role of HSPs in ischemic stroke (IS) risk is crucial for identifying novel therapeutic targets and advancing neuroprotective strategies.
View Article and Find Full Text PDFWhole-genome sequencing revealed a novel structural variant in causing autosomal dominant Alport syndrome: A case report.
Heliyon
December 2024
Service de Toxicologie et Génopathies, CHU Lille, F-59000, Lille, France.
Next-generation sequencing has substantially transformed the genomic diagnosis of individuals affected by inherited renal disorders. Indeed, accurate and rapid diagnostic for patients with suspected genetic kidney diseases is not only important for prognosis and patient management but also for family counseling. Alport syndrome, a genetic disease primarily affecting the basement membrane, is characterized by hematuria, progressive kidney failure, hearing impairment, as well as ocular abnormalities and stems from mutations in genes encoding type IV collagen.
View Article and Find Full Text PDFFrequency, characteristics, and immunological accompaniments of ataxia in anti-NMDAR antibody-associated encephalitis.
Front Immunol
December 2024
Department of Neurology, University Hospital Ulm, Ulm, Germany.
Introduction: Very rarely, adult NMDAR antibody-associated encephalitis (NMDAR-E) leads to persistent cerebellar atrophy and ataxia. Transient cerebellar ataxia is common in pediatric NMDAR-E. Immune-mediated cerebellar ataxia may be associated with myelin oligodendrocyte glycoprotein (MOG), aquaporin-4 (AQP-4), kelch-like family member 11 (KLHL11), and glutamate kainate receptor subunit 2 (GluK2) antibodies, all of which may co-occur in NMDAR-E.
View Article and Find Full Text PDFLung Function Decline in Pulmonary Alveolar Microlithiasis.
Cureus
November 2024
Pulmonary Medicine, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, ITA.
Pulmonary alveolar microlithiasis (PAM) is a rare lung disorder characterized by calcium phosphate microliths in the alveolar spaces. Autosomal recessive mutations on the SLC34A2 gene lead to altered type IIb sodium phosphate cotransporter in alveolar type-II cells of the lung, thus resulting in aggregations of microliths in the alveoli. To date, more than 1000 cases have been reviewed by expert pulmonary clinicians.
View Article and Find Full Text PDFTransient Psychotic Relapse Following COVID-19 in a Stable Schizophrenia Patient on Paliperidone Palmitate: A Case Report.
Cureus
November 2024
Psychiatry, Maudsley Health, Al Amal Psychiatric Hospital, Dubai, ARE.
Schizophrenia is a chronic psychiatric disorder marked by severe disturbances in thought, perception, and behavior. Long-acting injectable (LAI) antipsychotics, such as paliperidone, are widely used to promote sustained remission and ensure medication adherence, especially in patients prone to relapse. However, the COVID-19 pandemic has introduced unique challenges, with studies indicating that infections like COVID-19 may exacerbate psychiatric symptoms through neuroinflammatory pathways.
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!