Idiopathic generalized epilepsy (IGE) is a common type of epilepsy. Strong support for a genetic role in IGE comes from twin and family studies. Several subtypes of IGE have been reported but families often have members affected with different subtypes. Major advances have been made in the understanding of genetic basis of monogenic inherited epilepsies. However, most IGEs are complex genetic diseases and some susceptible IGE genes are shared across subtypes that determine subtypes in specific combinations. The high throughput technologies like deoxyribonucleic acid microarrays and sequencing technologies have the potential to identify causative genes or loci in non-familial cases.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.4103/0028-3886.125240 | DOI Listing |
Pediatr Rheumatol Online J
January 2025
Department of Immunology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Background: An accurate diagnosis of septic versus reactive or autoimmune arthritis remains clinically challenging. A multi-omics strategy comprising metagenomic and proteomic technologies were undertaken for children diagnosed with presumed septic arthritis to advance clinical diagnoses and care for affected individuals.
Methods: Twelve children with suspected septic arthritis were prospectively enrolled to compare standard of care tests with a rapid multi-omics approach.
Pediatr Rheumatol Online J
January 2025
Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno- Infantili (DINOGMI), Università Degli Studi Di Genova, Genoa, Italy.
Background: Over the past two decades there has been a remarkable advance in the management of juvenile idiopathic arthritis (JIA), which has led to considerable improvement in prognosis. In 2018, the introduction of the treat-to-target (T2T) strategy in JIA has been advocated to further ameliorate disease outcome. To provide a benchmark for comparing future outcomes in the "T2T era", this study investigates the percentage of JIA patients who achieved clinical inactive disease (CID) in the decade that preceded the publication of the T2T recommendations in JIA.
View Article and Find Full Text PDFBMC Neurol
January 2025
Department of Neurology, Dow University Hospital, Dow University of health sciences, Karachi, Pakistan.
Background: Oxidative damage has been implicated in multiple neurodegenerative diseases, including epilepsy. Selenium, in the form of selenoproteins is an integral part of the human antioxidant defense system. Though a relationship between the altered selenium levels and epilepsy has been reported, limited evidence is available about the expression pattern of selenoproteins in epileptic patients.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Respiratory and Critical Care Medicine, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, People's Republic of China.
The traditional Chinese medicine compound preparation known as Jinbei Oral Liquid (JBOL) consists of 12 herbs, including Astragalus membranaceus (Fisch.) Bge, Codonopsis pilosula (Franch.) Nannf, et al.
View Article and Find Full Text PDFFront Glob Womens Health
January 2025
Department of Research, Nord-Trøndelag Hospital Trust, Levanger, Norway.
Objectives: More knowledge about health related quality of life (HRQoL) among mothers with inflammatory joint disease (IJD) is needed to understand the complex challenges for this group of patients. The overall aim of this study was to investigate changes in HRQoL among mothers with IJD from year 2000 to year 2020.
Methods: This study had a comparative cross-sectional design with two study groups 20 years apart, year 2000 ( = 77) and year 2020 ( = 197).
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!