Results 51 to 60 of about 151,233 (253)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
ASSESING THE OUTCOMES OF PROLONGED PREGNANCY
Background: Lengthened pregnancy after the 41st week will create problems for mother, fetus and newborn. Assessing the outcomes of prolonged pregnancy are research priorities.
F Oskouie +3 more
doaj
Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli +5 more
wiley +1 more source
Background Women with endometriosis and previous cystectomy may respond less well to gonadotropin stimulation, which results in fewer oocytes retrieved and poor pregnancy outcomes. Choosing an appropriate protocol for such populations is essential.
Feiyan Zhao +8 more
doaj +1 more source
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
A balance of omega-3 and omega-6 polyunsaturated fatty acids is important in pregnancy
Emerging evidence suggests that omega (n)-3 PUFA and their metabolites improve maternal and neonatal health outcomes by modifying gestation length, and reducing the recurrence of pre-term delivery.
Olatunji Anthony Akerele +1 more
doaj +1 more source
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold +12 more
wiley +1 more source
Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi +8 more
wiley +1 more source
Risk Factors of Prolonged Nausea and Vomiting During Pregnancy
Huishan Zhang,1 Shuzhen Wu,2 Jingping Feng,2 Zhengping Liu1,2 1Foshan Fetal Medicine Research Institute, Foshan Women and Children Hospital Affiliated to Southern Medical University, Foshan, Guangdong, People’s Republic of China; 2Department of ...
Zhang H, Wu S, Feng J, Liu Z
doaj
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source

