Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Recent Trends in Metabolomics by NMR Spectroscopy
AI tools were applied to analyze more than 5 000 publications indexed in Scopus (2018–2025), identifying key trends and research directions in NMR‐based metabolomics. The artificial intelligence‐assisted workflow classified papers into six main fields of application, human health, food and nutrition, veterinary science, plants, environment, and ...
Giorgio Di Paco +6 more
wiley +2 more sources
Right-Hemisphere Language Dominance Unmasked by Acute Ischemic Stroke: A Case Report. [PDF]
Dieguez-Campa C +4 more
europepmc +1 more source
[Relationship between cerebral dominance and learning styles in Anesthesiology residents]. [PDF]
Ortega-Barreiro A +6 more
europepmc +1 more source
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz +7 more
wiley +1 more source
When a Large Left Hemisphere Stroke is All Right for Language, Praxis, and Visual Attention: A Case Report. [PDF]
Chang EHT +2 more
europepmc +1 more source
Dupilumab Beyond the Airway: Decreased Morbidity in a Real‐World Analysis
ABSTRACT Background Post hoc analyses of clinical trials have characterized dupilumab's adverse effects, yet the real‐world impact in chronic rhinosinusitis with nasal polyps (CRSwNP) and asthma is not well described. This study aims to characterize the risks of lymphoma, cardiovascular events, eosinophilia, joint pain, inflammatory arthritis, and ...
Emma J. Anisman +9 more
wiley +1 more source
Declined connectivity of thalamus and dorsomedial prefrontal cortex in post-stroke cognitive impairment delineated by lesion network mapping. [PDF]
Liu T +8 more
europepmc +1 more source
We identified 45% HFD as the optimal formulation to establish a juvenile rat model of obesity‐related precocious puberty. It elicits robust phenotypic (early vaginal opening, obesity), histological (advanced ovarian development), and endocrine (elevated HPG axis hormones) alterations, with leptin‐mediated GnRH secretion as a core mechanistic driver ...
Jiayi Gong +5 more
wiley +1 more source
Safe time thresholds for temporary artery occlusion and surgical approach side strategy in ACOM aneurysm surgery. [PDF]
Preuss-Hernandez C +6 more
europepmc +1 more source

