Results 31 to 40 of about 33,104 (203)
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Meticulous calculation of zebrafish‐equivalent therapeutic valproic acid (VPA) dosage maximized the translational value of the data. Hyposerotonergic tone underpinned an anxiety‐like outcome as a core symptom of autism spectrum disorder (ASD). Compartment‐specific dopaminergic and serotonergic dysregulation in the brain versus gut provided mechanistic ...
Lesha Pretorius +3 more
wiley +1 more source
Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study
Annals of Neurology, EarlyView.Objective To examine cortical thickness and white matter surface morphology in a large sample of individuals with Tourette syndrome (TS) and neurotypical controls across the lifespan, and to assess associations with symptom severity, comorbidities, and medication use.
Sahar Delavari +8 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective As leptomeningeal metastasis (LM) has a poor prognosis, reliable cerebrospinal fluid (CSF) diagnostic biomarkers are urgently needed. This study evaluated the diagnostic value of CSF growth differentiation factor 15 (GDF15) in LM from lung adenocarcinoma (LUAD) and breast cancer (BC).
Haoyu Ruan +12 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate +34 more
wiley +1 more source
Scoping literature review: Comparing MRI tractography methods for optic radiation analysis
The Anatomical Record, EarlyView.Abstract Accurate tractography mapping of the optic radiations is essential to avoiding post‐operative visual field deficits in patients undergoing temporal lobe surgery. This literature review highlights the current landscape of MRI tractography methods that are used to delineate the optic radiations (ORs), with a particular focus on the anterior ...
Hriday Sahni +3 more
wiley +1 more source
Autism Research, EarlyView.ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by altered synaptic connectivity and network organization, resulting in profound impairments in social communication and interaction. Transcranial direct current stimulation (tDCS) represents a promising approach to modulate maladaptive plasticity associated with ASD;
Antonia Ramme +9 more
wiley +1 more source
The impact of medication shortages on paediatric care: A retrospective impact analysis
British Journal of Clinical Pharmacology, EarlyView.Aims Medication shortages are a growing global concern, with potentially greater consequences in paediatric patients because of the limited availability of safe, evidence‐based and appropriately formulated medication. This study aimed to evaluate the impact of medication shortages on paediatric patients by assessing the suitability and safety of ...
Maaike Johanna Rutten ‐ van Kranenburg +6 more
wiley +1 more source
When meta‐analyses mislead: Promises and pitfalls in teratology counselling
British Journal of Clinical Pharmacology, EarlyView.Meta‐analysis has become a central tool for evidence synthesis in clinical teratology, offering the promise of increased statistical power, earlier signal detection and consolidated guidance for teratology counselling. When conducted rigorously and interpreted carefully, pooled analyses can provide clinicians with a structured basis for risk ...
Yusuf Cem Kaplan, Nusret Uysal
wiley +1 more source
British Educational Research Journal, EarlyView.Abstract School Attendance Problems (SAPs) represent a significant challenge requiring early identification and intervention. Current service provision often does not recognise early indicators that parents observe, creating gaps between when initial concerns are raised and formal support is provided.
Tereza Aidonopoulou‐Read +4 more
wiley +1 more source