Publications by authors named "E Fiorillo"
Article Synopsis
- Iron is a vital mineral connected to various biological functions, with studies linking its dysregulation to cardiovascular and neurodegenerative diseases, though the cause-effect relationship remains unclear.
- The research utilized computational methods and meta-analysis of genome-wide studies to look at how genetically predicted iron levels relate to the risk of 11 different diseases, revealing significant correlations especially with coronary heart disease and cholesterol levels.
- The findings suggest a potential protective effect of iron on Parkinson's disease risk in women, highlighting the need for further exploration of how iron impacts health differently across sexes and could inform future disease prevention and treatment strategies.
Article Synopsis
- Genetic studies have highlighted the need for more diverse research on plasma fibrinogen levels, as previous studies largely focused on Europeans, leading to gaps in understanding and missing heritability.
- By analyzing data from whole-genome sequencing and genotype data from large cohorts, researchers identified 18 genetic loci related to fibrinogen levels, some of which are more common in African populations and include variants that may impact protein function.
- The study's findings indicate a connection between fibrinogen levels and various health conditions, emphasizing the importance of whole-genome sequencing in discovering genetic factors in diverse populations and enhancing knowledge about fibrinogen regulation.
Vascular density normative data of radial peripapillary capillary plexus in healthy Caucasian subjects.
Graefes Arch Clin Exp Ophthalmol
August 2024
Purpose: To establish a normative database for vascular density (VD) of radial peripapillary capillary plexus (RPC) in healthy Caucasian subjects.
Methods: 633 healthy Caucasian subjects underwent a complete ophthalmological examination, including slit-lamp biomicroscopy, best corrected visual acuity measurement with Early Treatment Diabetic Retinopathy Study charts, intraocular pressure measurement, fundus examination, and macular and optic nerve head (ONH) structural optical coherence tomography (OCT). En-face 4.
Introduction: Disease-modifying therapies (DMTs) have been shown to improve disease outcomes in multiple sclerosis (MS) patients. They may also impair the immune response to vaccines, including the SARS-CoV-2 vaccine. However, available data on both the intrinsic immune effects of DMTs and their influence on cellular response to the SARS-CoV-2 vaccine are still incomplete.
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- Usher syndrome (USH) is a genetic condition characterized by hearing loss and vision problems due to retinitis pigmentosa, with a study focusing on 3 families out of 6,148 participants in the SardiNIA project highlighting its clinical and genetic aspects.
- The research involved comprehensive medical evaluations, including visual and auditory tests, and genetic testing to identify causal mutations in several candidate genes linked to USH.
- A significant finding was a single variant in the USH2A gene found in all affected patients, indicating a potential common ancestry or "founder effect" in the Sardinian population, which has implications for understanding the genetic basis of USH.