Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3899/jrheum.141621 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Elucidating the genetic contributions to Parkinson's disease (PD) etiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11,827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity (ROHs) in prioritized early onset and familial cases.
View Article and Find Full Text PDFAdvancing Insights into Pediatric Macular Diseases: A Comprehensive Review.
J Clin Med
January 2025
Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.
Pediatric macular disorders are a diverse group of inherited retinal diseases characterized by central vision loss due to dysfunction and degeneration of the macula, the region of the retina responsible for high-acuity vision. Common disorders in this category include Stargardt disease, Best vitelliform macular dystrophy, and X-linked retinoschisis. These conditions often manifest during childhood or adolescence, with symptoms such as progressive central vision loss, photophobia, and difficulty with fine visual tasks.
View Article and Find Full Text PDFPower Spectral Density and Default Mode Network Connectivity in Generalized Epilepsy Syndromes: What to Expect from Drug-Resistant Patients.
Biomedicines
December 2024
Neurology Department, Faculty of Medicine, University of Medicine and Pharmacy "Grigore T. Popa", 16 Universitatii Street, 700115 Iasi, Romania.
Recent studies have described unique aspects of default mode network connectivity in patients with idiopathic generalized epilepsy (IGE). A complete background in this field could be gained by combining this research with spectral analysis. An important objective of this study was to compare linear connectivity and power spectral densities across different activity bands of patients with juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), generalized tonic-clonic seizures alone (EGTCSA), and drug-resistant IGE (DR-IGE) with healthy, age-matched controls.
View Article and Find Full Text PDFTransition of patients with systemic lupus erythematosus from pediatric to adult-oriented rheumatology care.
Turk J Med Sci
December 2024
Division of Rheumatology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkiye.
Background/aim: The transition from pediatric to adult-oriented care for individuals with juvenile-onset systemic lupus erythematosus (SLE) poses significant challenges. This study aimed to assess the outcomes of transitioning patients with juvenile-onset SLE from pediatric to adult-oriented care.
Materials And Methods: Patients with juvenile-onset SLE were included in the study.
Abalones at risk: A global Red List assessment of Haliotis in a changing climate.
PLoS One
December 2024
Bodega Marine Laboratory, California Department of Fish and Wildlife and University of California Davis, Bodega Bay, California, United States of America.
Article Synopsis
- Awareness is growing about the threats to marine invertebrates like abalones, which are vulnerable due to slow growth and dense population needed for reproduction, compounded by fishing pressures and climate change.
- An IUCN Red List assessment revealed that 71.43% of commercially fished abalone species are classified as threatened, compared to only 15.15% of unexploited species, highlighting the severe impact of fishing practices.
- The North American Pacific coast shows the highest concentration of threatened abalone species, while areas like South Africa and Australia face issues with poaching and mass mortalities, prompting measures like ranching and stock enhancement to address these challenges.
Want 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!