Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8453419 | PMC |
| http://dx.doi.org/10.1093/ehjcr/ytab231 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cognitive Deficits in Anti-LGI1 Encephalitis Are Linked to Immunotherapy-Resistant White Matter Network Changes.
Neurol Neuroimmunol Neuroinflamm
March 2025
Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt- Universität zu Berlin.
Background And Objectives: Cognitive deficits represent a major long-term complication of anti-leucine-rich, glioma-inactivated 1 encephalitis (LGI1-E). Although severely affecting patient outcomes, the structural brain changes underlying these deficits remain poorly understood. In this study, we hypothesized a link between white matter (WM) networks and cognitive outcomes in LGI1-E.
View Article and Find Full Text PDFClassification of speech nasality of individuals with cleft lip and palate with distinct ordinal scales.
Codas
January 2025
Programa de Pós-Graduação em Fonoaudiologia, Universidade Estadual Paulista "Júlio de Mesquita Filho" - UNESP - Marília (SP), Brasil.
Purpose: To investigate whether there is a difference in the classification of speech hypernasality by inexperienced listeners using different ordinal scales; to verify the agreement of the listeners in the analyses when using these scales; and to verify whether the order in which the scales are presented influences the results.
Methods: Twenty Speech-Language Pathology students classified the degrees of hypernasality of 40 (oral) samples from patients with cleft lip and palate. Ten performed the classifications using a 4-point scale (absent, mild, moderate, and severe) and, after two weeks, using a 3-point scale (absent, slightly hypernasal, and very hypernasal).
Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia.
Sci Transl Med
January 2025
Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, MO 63110, USA.
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder linked to chronic respiratory issues, infertility, and problems with body asymmetry, primarily caused by mutations in the CCDC39 and CCDC40 genes.
- Researchers used advanced techniques to investigate how these genetic variants impact cellular functions beyond just causing cilia to stop moving.
- They discovered that the absence of CCDC39/CCDC40 creates a significant loss of over 90 ciliary structural proteins, leading to cilia dysfunction and other cellular issues, suggesting that gene therapy could potentially offer a new treatment strategy for PCD.
Correcting a pathogenic mitochondrial DNA mutation by base editing in mice.
Sci Transl Med
January 2025
Graduate Program in Human Genetics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue (M-860), Miami, FL 33136, USA.
Primary mitochondrial disorders are most often caused by deleterious mutations in the mitochondrial DNA (mtDNA). Here, we used a mitochondrial DddA-derived cytosine base editor (DdCBE) to introduce a compensatory edit in a mouse model that carries the pathological mutation in the mitochondrial transfer RNA (tRNA) alanine (mt-tRNA) gene. Because the original m.
View Article and Find Full Text PDFPrior vaccination prevents overactivation of innate immune responses during COVID-19 breakthrough infection.
Sci Transl Med
January 2025
Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
At this stage in the COVID-19 pandemic, most infections are "breakthrough" infections that occur in individuals with prior severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) exposure. To refine long-term vaccine strategies against emerging variants, we examined both innate and adaptive immunity in breakthrough infections. We performed single-cell transcriptomic, proteomic, and functional profiling of primary and breakthrough infections to compare immune responses from unvaccinated and vaccinated individuals during the SARS-CoV-2 Delta wave.
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!