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Genetic ancestry superpopulations show distinct prevalence and outcomes across pediatric central nervous system tumors from the PBTA and PNOC.
Neuro Oncol
January 2025
Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Background: Central nervous system (CNS) tumors lead to cancer-related mortality in children. Genetic ancestry-associated cancer prevalence and outcomes have been studied, but is limited.
Methods: We performed genetic ancestry prediction in 1,452 pediatric patients with paired normal and tumor whole genome sequencing from the Open Pediatric Cancer (OpenPedCan) project to evaluate the influence of reported race and ethnicity and ancestry-based genetic superpopulations on tumor histology, molecular subtype, survival, and treatment.
Causal Relationship Between Autoimmune Rheumatic Diseases and Iridocyclitis: A Bidirectional Two-Sample Mendelian Randomization Study.
Ocul Immunol Inflamm
January 2025
Department of Neurology & Stroke, University of Tübingen, Tübingen, Germany.
Purpose: This study aims to explore the relationship between autoimmune rheumatic diseases (ARDs) and the risk of iridocyclitis (IC) using Mendelian randomization (MR) analysis.
Methods: Data of ankylosing spondylitis (AS), systemic lupus erythematosus (SLE), juvenile idiopathic arthritis (JIA), Behcet's disease (BD), and iridocyclitis were obtained from genome-wide association studies with large sample sizes. The instrumental variable utilized in this study for each exposure was the single nucleotide polymorphism.
Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.
Ocul Immunol Inflamm
January 2025
Department of Neurology, University Hospital of Angers, Angers, France.
Purpose: To report the clinical presentation and follow-up, including the optical coherence tomography, angiography and electrophysiology of two individuals from the same family presenting with an isolated retinal dystrophy and optic nerve edema who were diagnosed with ROSAH-like syndrome.
Method: Observational case report of a 55-year-old woman and her 36-year-old son with a genetic analysis of ROSAH, after a long-term follow-up.
Results: Both the mother and her son displayed severe optic nerve infiltration and retinal pigment atrophy with intraocular inflammation, which were not improved by immunosuppressive treatment.
Eye Movements and the Intraorbital Subarachnoid Space: Potential Contribution of Altered Cerebrospinal Fluid Pumping in Optic Neuropathies.
Invest Ophthalmol Vis Sci
January 2025
Department of Ophthalmology, University of California, Los Angeles, California, United States.
Purpose: The optic nerve (ON) is mechanically perturbed by eye movements that shift cerebrospinal fluid (CSF) within its surrounding dural sheath. This study compared changes in ON length and CSF volume within the intraorbital ON sheath caused by eye movements in healthy subjects and patients with optic neuropathies.
Methods: Twenty-one healthy controls were compared with 11 patients having primary open angle glaucoma (POAG) at normal intraocular pressure (IOP), and 11 with chronic non-arteritic anterior ischemic optic neuropathy (NA-AION).
Painful diabetic neuropathy is associated with accelerated epigenetic aging.
Geroscience
January 2025
Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
About one out of two diabetic patients develop diabetic neuropathy (DN), of these 20% experience neuropathic pain (NP) leading to individual, social, and health-economic burden. Risk factors for NP are largely unknown; however, premature aging was recently associated with several chronic pain disorders. DNA methylation-based biological age (DNAm) is associated with disease risk, morbidity, and mortality in different clinical settings.
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