A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
Continued Nintedanib Treatment in Children and Adolescents With Fibrosing ILDs: Data From InPedILD-ON. [PDF]
Deterding R +14 more
europepmc +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
External Beam Radiation Therapy for Pheochromocytoma and Non-Head and Neck Paraganglioma: A Single-Institution Experience and Systematic Review. [PDF]
Jin KS +7 more
europepmc +1 more source
T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions
ABSTRACT Objective Differentiating remyelinated from demyelinated lesions in MS remains challenging without histological confirmation. This study introduces the T1‐to‐PD2 ratio (TPR) imaging approach and evaluates its ability to characterize MS lesions alongside other quantitative MRI (qMRI) metrics. Methods Thirty individuals with MS (mean age: 47.5 ±
Sarah J. Wright +10 more
wiley +1 more source
Severe Progression of Scoliosis Beyond Skeletal Maturity in Partial Trisomy 13: A Case Report Expanding the Phenotypic Spectrum. [PDF]
Fabregas A +4 more
europepmc +1 more source
Langerhans Cell Histiocytosis Associated With Chronic Myeloid Leukemia: A Pediatric Case Report. [PDF]
Latifi A, Yousefian S.
europepmc +1 more source
Limited benefit of liver transplantation in a boy with biallelic severe deficiency of hydroxymethylbilane synthase and review of prior reported cases. [PDF]
Araque M +5 more
europepmc +1 more source
Appendicitis-Associated Pylephlebitis With Superior Mesenteric Vein Thrombosis and Portal Vein Extension: A Case Report. [PDF]
Ortega-Zapata LA +5 more
europepmc +1 more source
Overcoming Acquired MET-Driven Resistance to First-Line Lorlatinib: Successful Combination of Lorlatinib and Envafolimab in an ALK-Positive NSCLC Patient with Ultra-High PD-L1 Expression. [PDF]
Ding L +4 more
europepmc +1 more source

